ClinVar

NM_000166.6(GJB1):c.85T>C (p.Phe29Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

• ChrX: 71223792 (on Assembly GRCh38)
• ChrX: 70443642 (on Assembly GRCh37)

Preferred name:

NM_000166.6(GJB1):c.85T>C (p.Phe29Leu)

HGVS:

• NC_000023.11:g.71223792T>C
• NG_008357.1:g.13581T>C
• NM_000166.6:c.85T>CMANE SELECT
• NM_001097642.3:c.85T>C
• NP_000157.1:p.Phe29Leu
• NP_001091111.1:p.Phe29Leu
• LRG_245t2:c.85T>C
• LRG_245:g.13581T>C
• LRG_245p2:p.Phe29Leu
• NC_000023.10:g.70443642T>C

This HGVS expression did not pass validation

Protein change:

F29L

Links:

dbSNP: rs1602348703

NCBI 1000 Genomes Browser:

rs1602348703

Molecular consequence:

• NM_000166.6:c.85T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001097642.3:c.85T>C - missense variant - [Sequence Ontology: SO:0001583]