ClinVar

NM_001110219.3(GJB6):c.-185-55G>A

Gene:

GJB6:gap junction protein beta 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.11

Genomic location:

• Chr13: 20229804 (on Assembly GRCh38)
• Chr13: 20803943 (on Assembly GRCh37)

Preferred name:

NM_001110219.3(GJB6):c.-185-55G>A

HGVS:

• NC_000013.11:g.20229804C>T
• NG_008323.1:g.7592G>A
• NM_001110219.3:c.-185-55G>AMANE SELECT
• NM_001110220.3:c.-185-55G>A
• NM_001110221.3:c.-185-55G>A
• NM_001370090.1:c.-185-55G>A
• NM_001370091.1:c.-185-55G>A
• NM_001370092.1:c.-185-55G>A
• NM_006783.5:c.-185-55G>A
• LRG_1395t1:c.-185-55G>A
• LRG_1395:g.7592G>A
• NC_000013.10:g.20803943C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs5802042

NCBI 1000 Genomes Browser:

rs5802042

Molecular consequence:

• NM_001110219.3:c.-185-55G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001110220.3:c.-185-55G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001110221.3:c.-185-55G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370090.1:c.-185-55G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370091.1:c.-185-55G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370092.1:c.-185-55G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_006783.5:c.-185-55G>A - intron variant - [Sequence Ontology: SO:0001627]