An
Autosomal dominant, Autosomal recessive
mode(s) within the
Blood disorders
category
Conflicting classifications of pathogenicity
4
Likely pathogenic
2
Pathogenic
1
Pathogenic/Likely pathogenic
3
Uncertain significance
4
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000037.4(ANK1):c.5633G>A (p.Gly1878Glu) | Single nucleotide variant | Chr8:41661476 | Uncertain significance | Missense variant|intron variant | rs778450388 |
.Subrahamanyam Lab, Department of Biochemistry, National Institute of Nutrition, Indian Council of Medical Research |
| NM_000037.4(ANK1):c.4783G>A (p.Ala1595Thr) | Single nucleotide variant | Chr8:41672667 | Uncertain significance | Missense variant|intron variant | rs1204538439 |
.Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi |
| NM_000037.4(ANK1):c.3325C>T (p.Gln1109Ter) | Single nucleotide variant | Chr8:41694594 | Pathogenic/Likely pathogenic | Nonsense | rs2150593157 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000342.4(SLC4A1):c.2656C>A (p.Leu886Met) | Single nucleotide variant | Chr17:44250538 | Conflicting classifications of pathogenicity | Missense variant | rs150340150 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi |
| NM_000342.4(SLC4A1):c.2716G>C (p.Glu906Gln) | Single nucleotide variant | Chr17:44250478 | Conflicting classifications of pathogenicity | Missense variant | rs199694087 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi |
| NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) | Single nucleotide variant | Chr17:44251241 | Pathogenic/Likely pathogenic | Missense variant | rs121912751 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) | Single nucleotide variant | Chr17:44255708 | Pathogenic/Likely pathogenic | Missense variant | rs121912745 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi |
| NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His) | Single nucleotide variant | Chr17:44255707 | Pathogenic | Missense variant | rs121912744 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi |
| NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) | Single nucleotide variant | Chr17:44261625 | Conflicting classifications of pathogenicity | Missense variant | rs45562031 |
.Bioinformatics dept., Datar Cancer Genetics Limited, India |
| NM_003126.4(SPTA1):c.1422G>T (p.Gln474His) | Single nucleotide variant | Chr1:158672125 | Uncertain significance | Missense variant | rs762010257 |
.Subrahamanyam Lab, Department of Biochemistry, National Institute of Nutrition, Indian Council of Medical Research |
| NM_001355436.2(SPTB):c.1509G>C (p.Lys503Asn) | Single nucleotide variant | Chr14:64795472 | Uncertain significance | Missense variant | rs751281187 |
.Neuberg Centre For Genomic Medicine, NCGM .Subrahamanyam Lab, Department of Biochemistry, National Institute of Nutrition, Indian Council of Medical Research |
| NM_001355436.2(SPTB):c.1182+2T>C | Single nucleotide variant | Chr14:64797727 | Likely pathogenic | Splice donor variant | rs2139613101 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001355436.2(SPTB):c.2519G>A (p.Arg840His) | Single nucleotide variant | Chr14:64793144 | Conflicting classifications of pathogenicity | Missense variant | rs146326769 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_001355436.2(SPTB):c.3784_3787del (p.Lys1262fs) | Deletion | Chr14:64785605 - 64785608 | Likely pathogenic | Frameshift variant | rs1594773586 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution