ClinVar

NM_000210.4(ITGA6):c.*58T>C

Genes:

PDK1-AS1:PDK1 and ITGA6 antisense RNA 1 [Gene - HGNC]
ITGA6:integrin subunit alpha 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

• Chr2: 172504126 (on Assembly GRCh38)
• Chr2: 173368854 (on Assembly GRCh37)

Preferred name:

NM_000210.4(ITGA6):c.*58T>C

HGVS:

• NC_000002.12:g.172504126T>C
• NG_008853.1:g.81541T>C
• NM_000210.4:c.*58T>CMANE SELECT
• NM_001079818.3:c.3150T>C
• NM_001316306.2:c.*58T>C
• NM_001365529.2:c.3105T>C
• NM_001365530.2:c.*58T>C
• NP_001073286.1:p.Ser1050=
• NP_001352458.1:p.Ser1035=
• NC_000002.11:g.173368854T>C
• NM_000210.2:c.*58T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs150113724

NCBI 1000 Genomes Browser:

rs150113724

Molecular consequence:

• NM_000210.4:c.*58T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001316306.2:c.*58T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001365530.2:c.*58T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001079818.3:c.3150T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001365529.2:c.3105T>C - synonymous variant - [Sequence Ontology: SO:0001819]