ClinVar

NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

• ChrX: 71223930 (on Assembly GRCh38)
• ChrX: 70443780 (on Assembly GRCh37)

Preferred name:

NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)

HGVS:

• NC_000023.11:g.71223930C>T
• NG_008357.1:g.13719C>T
• NM_000166.6:c.223C>TMANE SELECT
• NM_001097642.3:c.223C>T
• NP_000157.1:p.Arg75Trp
• NP_001091111.1:p.Arg75Trp
• NP_001091111.1:p.Arg75Trp
• LRG_245t1:c.223C>T
• LRG_245t2:c.223C>T
• LRG_245:g.13719C>T
• LRG_245p1:p.Arg75Trp
• LRG_245p2:p.Arg75Trp
• NC_000023.10:g.70443780C>T
• NM_000166.5:c.223C>T
• NM_001097642.2:c.223C>T
• P08034:p.Arg75Trp

This HGVS expression did not pass validation

Protein change:

R75W

Links:

UniProtKB: P08034#VAR_002053; dbSNP: rs116840819

NCBI 1000 Genomes Browser:

rs116840819

Molecular consequence:

• NM_000166.6:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001097642.3:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]