ClinVar

NM_001110219.3(GJB6):c.680C>T (p.Thr227Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.11

Genomic location:

• Chr13: 20222801 (on Assembly GRCh38)
• Chr13: 20796940 (on Assembly GRCh37)

Preferred name:

NM_001110219.3(GJB6):c.680C>T (p.Thr227Met)

HGVS:

• NC_000013.11:g.20222801G>A
• NG_008323.1:g.14595C>T
• NM_001110219.3:c.680C>TMANE SELECT
• NM_001110220.3:c.680C>T
• NM_001110221.3:c.680C>T
• NM_001370090.1:c.680C>T
• NM_001370091.1:c.680C>T
• NM_001370092.1:c.680C>T
• NM_006783.5:c.680C>T
• NP_001103689.1:p.Thr227Met
• NP_001103690.1:p.Thr227Met
• NP_001103691.1:p.Thr227Met
• NP_001357019.1:p.Thr227Met
• NP_001357020.1:p.Thr227Met
• NP_001357021.1:p.Thr227Met
• NP_006774.2:p.Thr227Met
• NP_006774.2:p.Thr227Met
• LRG_1395t1:c.680C>T
• LRG_1395:g.14595C>T
• LRG_1395p1:p.Thr227Met
• NC_000013.10:g.20796940G>A
• NM_001110219.2:c.680C>T
• NM_006783.4:c.680C>T

This HGVS expression did not pass validation

Protein change:

T227M

Links:

dbSNP: rs199790650

NCBI 1000 Genomes Browser:

rs199790650

Molecular consequence:

• NM_001110219.3:c.680C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001110220.3:c.680C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001110221.3:c.680C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370090.1:c.680C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370091.1:c.680C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370092.1:c.680C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006783.5:c.680C>T - missense variant - [Sequence Ontology: SO:0001583]