ClinVar

NM_004004.6(GJB2):c.518C>T (p.Pro173Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.11

Genomic location:

• Chr13: 20189064 (on Assembly GRCh38)
• Chr13: 20763203 (on Assembly GRCh37)

Preferred name:

NM_004004.6(GJB2):c.518C>T (p.Pro173Leu)

HGVS:

• NC_000013.11:g.20189064G>A
• NG_008358.1:g.8912C>T
• NM_004004.6:c.518C>TMANE SELECT
• NP_003995.2:p.Pro173Leu
• LRG_1350t1:c.518C>T
• LRG_1350:g.8912C>T
• LRG_1350p1:p.Pro173Leu
• NC_000013.10:g.20763203G>A

This HGVS expression did not pass validation

Protein change:

P173L

Links:

dbSNP: rs1555341843

NCBI 1000 Genomes Browser:

rs1555341843

Molecular consequence:

• NM_004004.6:c.518C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1