ClinVar

NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)

Gene:

GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.11

Genomic location:

• Chr13: 20189523 (on Assembly GRCh38)
• Chr13: 20763662 (on Assembly GRCh37)

Preferred name:

NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)

HGVS:

• NC_000013.11:g.20189523A>G
• NG_008358.1:g.8453T>C
• NM_004004.6:c.59T>CMANE SELECT
• NP_003995.2:p.Ile20Thr
• LRG_1350t1:c.59T>C
• LRG_1350:g.8453T>C
• LRG_1350p1:p.Ile20Thr
• NC_000013.10:g.20763662A>G
• NM_004004.5:c.59T>C

This HGVS expression did not pass validation

Protein change:

I20T

Links:

dbSNP: rs1057517519

NCBI 1000 Genomes Browser:

rs1057517519

Molecular consequence:

• NM_004004.6:c.59T>C - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

loss_of_function_variant [Sequence Ontology: SO:0002054]