Autosomal recessive nonsyndromic hearing loss 1A
An Autosomal recessive, Digenic dominant mode(s) within the Ear disorders category
Likely pathogenic
1
Pathogenic
5
Pathogenic/Likely pathogenic
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_004004.6(GJB2):c.505T>C (p.Cys169Arg) | Single nucleotide variant | Chr13:20189077 | Likely pathogenic | Missense variant | rs760489970 |
.Lifecell International Pvt. Ltd |
| NM_004004.6(GJB2):c.474C>G (p.Tyr158Ter) | Single nucleotide variant | Chr13:20189108 | Pathogenic | Nonsense | rs375759781 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) | Single nucleotide variant | Chr13:20189488 | Pathogenic | Missense variant | rs371024165 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_004004.6(GJB2):c.313_326del (p.Lys105fs) | Deletion | Chr13:20189256 - 20189269 | Pathogenic/Likely pathogenic | rs111033253 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
|
| NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) | Single nucleotide variant | Chr13:20189031 | Pathogenic | Missense variant | rs80338950 | |
| NM_004004.6(GJB2):c.-23+1G>A | Single nucleotide variant | Chr13:20192782 | Pathogenic/Likely pathogenic | Splice donor variant | rs80338940 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Lifecell International Pvt. Ltd |
| NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) | Single nucleotide variant | Chr13:20189351 | Pathogenic | Nonsense | rs80338944 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) | Single nucleotide variant | Chr13:20223218 | Pathogenic | Missense variant | rs28937872 |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution