ClinVar

NM_000166.6(GJB1):c.610C>T (p.Leu204Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

• ChrX: 71224317 (on Assembly GRCh38)
• ChrX: 70444167 (on Assembly GRCh37)

Preferred name:

NM_000166.6(GJB1):c.610C>T (p.Leu204Phe)

HGVS:

• NC_000023.11:g.71224317C>T
• NG_008357.1:g.14106C>T
• NM_000166.6:c.610C>TMANE SELECT
• NM_001097642.3:c.610C>T
• NP_000157.1:p.Leu204Phe
• NP_001091111.1:p.Leu204Phe
• LRG_245t2:c.610C>T
• LRG_245:g.14106C>T
• LRG_245p2:p.Leu204Phe
• NC_000023.10:g.70444167C>T
• NM_000166.5:c.610C>T

This HGVS expression did not pass validation

Protein change:

L204F

Links:

dbSNP: rs1064795540

NCBI 1000 Genomes Browser:

rs1064795540

Molecular consequence:

• NM_000166.6:c.610C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001097642.3:c.610C>T - missense variant - [Sequence Ontology: SO:0001583]