An
Autosomal dominant, Autosomal recessive
mode(s) within the
Blood disorders
category
Conflicting classifications of pathogenicity
1
Likely pathogenic
1
Pathogenic
14
Pathogenic/Likely pathogenic
5
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000518.5(HBB):c.164_168delinsGGCATCA (p.Val55fs) | Indel | Chr11:5226724 - 5226728 | Pathogenic | Frameshift variant | rs1564875331 |
.Genetics Service Unit, BRIC-National Institute of Biomedical Genomics |
| NM_000518.5(HBB):c.91A>C (p.Arg31=) | Single nucleotide variant | Chr11:5226931 | Likely pathogenic | Synonymous variant | rs35684407 |
.MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN |
| NM_000518.5(HBB):c.*110T>C | Single nucleotide variant | Chr11:5225488 | Pathogenic | 3 prime UTR variant | rs33978907 |
.Neuberg Centre For Genomic Medicine, NCGM |
| NM_000518.5(HBB):c.316-14T>G | Single nucleotide variant | Chr11:5225740 | Pathogenic/Likely pathogenic | Intron variant | rs35703285 | |
| NM_000518.5(HBB):c.27dup (p.Ser10fs) | Duplication | Chr11:5226994 - 5226995 | Pathogenic | Frameshift variant | rs35699606 |
.Lifecell International Pvt. Ltd .MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000518.5(HBB):c.-137C>T | Single nucleotide variant | Chr11:5227158 | Pathogenic/Likely pathogenic | rs33941377 | ||
| NM_000518.5(HBB):c.-140C>T | Single nucleotide variant | Chr11:5227161 | Pathogenic/Likely pathogenic | rs34999973 |
.MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN |
|
| NM_000518.5(HBB):c.92+5G>C | Single nucleotide variant | Chr11:5226925 | Pathogenic | Intron variant | rs33915217 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Lifecell International Pvt. Ltd .MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN .Neuberg Centre For Genomic Medicine, NCGM .Suma Genomics |
| NM_000518.5(HBB):c.92+1G>T | Single nucleotide variant | Chr11:5226929 | Pathogenic | Splice donor variant | rs33971440 |
.MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN |
| NM_000518.5(HBB):c.17_18del (p.Pro6fs) | Deletion | Chr11:5227004 - 5227005 | Pathogenic | Frameshift variant | rs34889882 |
.MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN |
| NM_000518.5(HBB):c.126_129del (p.Phe42fs) | Deletion | Chr11:5226763 - 5226766 | Pathogenic/Likely pathogenic | Frameshift variant | rs80356821 |
.Lifecell International Pvt. Ltd .MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000518.5(HBB):c.51del (p.Lys18fs) | Deletion | Chr11:5226971 | Pathogenic | Frameshift variant | rs35662066 |
.Lifecell International Pvt. Ltd .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000518.5(HBB):c.47G>A (p.Trp16Ter) | Single nucleotide variant | Chr11:5226975 | Pathogenic | Nonsense | rs63750783 |
.MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000518.4(HBB):c.332T>C (p.Leu111Pro) | Single nucleotide variant | Chr11:5225710 | Pathogenic | Missense variant | rs35256489 |
.MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN |
| NM_000518.5(HBB):c.20A>T (p.Glu7Val) | Single nucleotide variant | Chr11:5227002 | Pathogenic | Missense variant | rs334 |
.Lifecell International Pvt. Ltd .MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000518.4(HBB):c.92G>C (p.Arg31Thr) | Single nucleotide variant | Chr11:5226930 | Pathogenic | Missense variant | rs33960103 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000518.5(HBB):c.380T>A (p.Val127Glu) | Single nucleotide variant | Chr11:5225662 | Conflicting classifications of pathogenicity | Missense variant | rs33925391 |
.Neuberg Centre For Genomic Medicine, NCGM |
| NM_000518.5(HBB):c.79G>A (p.Glu27Lys) | Single nucleotide variant | Chr11:5226943 | Pathogenic | Missense variant | rs33950507 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Lifecell International Pvt. Ltd .MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN .Neuberg Centre For Genomic Medicine, NCGM .Suma Genomics |
| NM_000518.4(HBB):c.364G>C (p.Glu122Gln) | Single nucleotide variant | Chr11:5225678 | Pathogenic/Likely pathogenic | Missense variant | rs33946267 |
.Neuberg Centre For Genomic Medicine, NCGM |
| NM_000518.5(HBB):c.92+1G>A | Single nucleotide variant | Chr11:5226929 | Pathogenic | Splice donor variant | rs33971440 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000518.5(HBB):c.46del (p.Trp16fs) | Deletion | Chr11:5226976 | Pathogenic | Frameshift variant | rs63749960 |
.MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution