ClinVar

NM_000352.6(ABCC8):c.2916G>A (p.Glu972=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17407358 (on Assembly GRCh38)
• Chr11: 17428905 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.2916G>A (p.Glu972=)

HGVS:

• NC_000011.10:g.17407358C>T
• NG_008867.1:g.74545G>A
• NM_000352.6:c.2916G>AMANE SELECT
• NM_001287174.3:c.2919G>A
• NM_001351295.2:c.2982G>A
• NM_001351296.2:c.2916G>A
• NM_001351297.2:c.2913G>A
• NP_000343.2:p.Glu972=
• NP_001274103.1:p.Glu973=
• NP_001338224.1:p.Glu994=
• NP_001338225.1:p.Glu972=
• NP_001338226.1:p.Glu971=
• LRG_790t1:c.2916G>A
• LRG_790t2:c.2919G>A
• LRG_790:g.74545G>A
• LRG_790p1:p.Glu972=
• LRG_790p2:p.Glu973=
• NC_000011.9:g.17428905C>T
• NR_147094.2:n.2985G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1954592292

NCBI 1000 Genomes Browser:

rs1954592292

Molecular consequence:

• NR_147094.2:n.2985G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000352.6:c.2916G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001287174.3:c.2919G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351295.2:c.2982G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351296.2:c.2916G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351297.2:c.2913G>A - synonymous variant - [Sequence Ontology: SO:0001819]