ClinVar

NM_000166.6(GJB1):c.383C>T (p.Ser128Leu)

Gene:

GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

• ChrX: 71224090 (on Assembly GRCh38)
• ChrX: 70443940 (on Assembly GRCh37)

Preferred name:

NM_000166.6(GJB1):c.383C>T (p.Ser128Leu)

HGVS:

• NC_000023.11:g.71224090C>T
• NG_008357.1:g.13879C>T
• NM_000166.6:c.383C>TMANE SELECT
• NM_001097642.3:c.383C>T
• NP_000157.1:p.Ser128Leu
• NP_001091111.1:p.Ser128Leu
• LRG_245t2:c.383C>T
• LRG_245:g.13879C>T
• LRG_245p2:p.Ser128Leu
• NC_000023.10:g.70443940C>T
• NM_000166.5:c.383C>T

This HGVS expression did not pass validation

Protein change:

S128L

Links:

dbSNP: rs1602349272

NCBI 1000 Genomes Browser:

rs1602349272

Molecular consequence:

• NM_000166.6:c.383C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001097642.3:c.383C>T - missense variant - [Sequence Ontology: SO:0001583]