ClinVar

NM_000352.6(ABCC8):c.4607C>T (p.Ala1536Val)

Gene:

ABCC8:ATP binding cassette subfamily C member 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17393698 (on Assembly GRCh38)
• Chr11: 17415245 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.4607C>T (p.Ala1536Val)

HGVS:

• NC_000011.10:g.17393698G>A
• NG_008867.1:g.88205C>T
• NM_000352.6:c.4607C>TMANE SELECT
• NM_001287174.3:c.4610C>T
• NM_001351295.2:c.4673C>T
• NM_001351296.2:c.4607C>T
• NM_001351297.2:c.4604C>T
• NP_000343.2:p.Ala1536Val
• NP_001274103.1:p.Ala1537Val
• NP_001338224.1:p.Ala1558Val
• NP_001338225.1:p.Ala1536Val
• NP_001338226.1:p.Ala1535Val
• LRG_790t1:c.4607C>T
• LRG_790t2:c.4610C>T
• LRG_790:g.88205C>T
• LRG_790p1:p.Ala1536Val
• LRG_790p2:p.Ala1537Val
• NC_000011.9:g.17415245G>A
• NM_000352.3:c.4607C>T
• NR_147094.2:n.4902C>T

This HGVS expression did not pass validation

Protein change:

A1535V

Links:

dbSNP: rs745918247

NCBI 1000 Genomes Browser:

rs745918247

Molecular consequence:

• NM_000352.6:c.4607C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287174.3:c.4610C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351295.2:c.4673C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351296.2:c.4607C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351297.2:c.4604C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_147094.2:n.4902C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]