ClinVar

NM_000166.6(GJB1):c.594T>A (p.Ser198=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

• ChrX: 71224301 (on Assembly GRCh38)
• ChrX: 70444151 (on Assembly GRCh37)

Preferred name:

NM_000166.6(GJB1):c.594T>A (p.Ser198=)

HGVS:

• NC_000023.11:g.71224301T>A
• NG_008357.1:g.14090T>A
• NM_000166.6:c.594T>AMANE SELECT
• NM_001097642.3:c.594T>A
• NP_000157.1:p.Ser198=
• NP_001091111.1:p.Ser198=
• LRG_245t2:c.594T>A
• LRG_245:g.14090T>A
• LRG_245p2:p.Ser198=
• NC_000023.10:g.70444151T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs768342461

NCBI 1000 Genomes Browser:

rs768342461

Molecular consequence:

• NM_000166.6:c.594T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001097642.3:c.594T>A - synonymous variant - [Sequence Ontology: SO:0001819]