ClinVar

NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17395172 (on Assembly GRCh38)
• Chr11: 17416719 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn)

Other names:

NM_000352.6(ABCC8):c.4411G>A; p.Asp1471Asn

HGVS:

• NC_000011.10:g.17395172C>T
• NG_008867.1:g.86731G>A
• NM_000352.6:c.4411G>AMANE SELECT
• NM_001287174.3:c.4414G>A
• NM_001351295.2:c.4477G>A
• NM_001351296.2:c.4411G>A
• NM_001351297.2:c.4408G>A
• NP_000343.2:p.Asp1471Asn
• NP_001274103.1:p.Asp1472Asn
• NP_001338224.1:p.Asp1493Asn
• NP_001338225.1:p.Asp1471Asn
• NP_001338226.1:p.Asp1470Asn
• LRG_790t1:c.4411G>A
• LRG_790t2:c.4414G>A
• LRG_790:g.86731G>A
• LRG_790p1:p.Asp1471Asn
• LRG_790p2:p.Asp1472Asn
• NC_000011.9:g.17416719C>T
• NM_000352.3:c.4411G>A
• NM_000352.4:c.4411G>A
• NM_000352.5:c.4411G>A
• NR_147094.2:n.4706G>A

This HGVS expression did not pass validation

Protein change:

D1470N

Links:

dbSNP: rs72559716

NCBI 1000 Genomes Browser:

rs72559716

Molecular consequence:

• NM_000352.6:c.4411G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287174.3:c.4414G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351295.2:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351296.2:c.4411G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351297.2:c.4408G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_147094.2:n.4706G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]