ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
Pendred syndrome
VCEP
Hearing Loss VCEP
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00346585 (NFE)
Genomes Max Group AF
0.00346767 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107660756T>C , CM000669.2:g.107660756T>C | GRCh38 |
| NC_000007.13:g.107301201T>C , CM000669.1:g.107301201T>C | GRCh37 |
| NC_000007.12:g.107088437T>C | NCBI36 |
| NG_008489.1:g.5122T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265715.7:c.-103T>C (SLC26A4) | ENSP00000265715.3:n.-103T>C | |
| NM_000441.1:c.-103T>C (SLC26A4) | NP_000432.1:n.-103T>C | |
| NR_028137.1:n.198-550A>G (SLC26A4-AS1) |