ClinVar

NM_000352.6(ABCC8):c.2858A>C (p.Gln953Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17407416 (on Assembly GRCh38)
• Chr11: 17428963 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.2858A>C (p.Gln953Pro)

HGVS:

• NC_000011.10:g.17407416T>G
• NG_008867.1:g.74487A>C
• NM_000352.6:c.2858A>CMANE SELECT
• NM_001287174.3:c.2861A>C
• NM_001351295.2:c.2924A>C
• NM_001351296.2:c.2858A>C
• NM_001351297.2:c.2855A>C
• NP_000343.2:p.Gln953Pro
• NP_001274103.1:p.Gln954Pro
• NP_001338224.1:p.Gln975Pro
• NP_001338225.1:p.Gln953Pro
• NP_001338226.1:p.Gln952Pro
• LRG_790t1:c.2858A>C
• LRG_790t2:c.2861A>C
• LRG_790:g.74487A>C
• LRG_790p1:p.Gln953Pro
• LRG_790p2:p.Gln954Pro
• NC_000011.9:g.17428963T>G
• NM_000352.4:c.2858A>C
• NM_000352.5:c.2858A>C
• NR_147094.2:n.2927A>C

This HGVS expression did not pass validation

Protein change:

Q952P

Links:

dbSNP: rs761960758

NCBI 1000 Genomes Browser:

rs761960758

Molecular consequence:

• NM_000352.6:c.2858A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287174.3:c.2861A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351295.2:c.2924A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351296.2:c.2858A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351297.2:c.2855A>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_147094.2:n.2927A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]