ClinVar

NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17397788 (on Assembly GRCh38)
• Chr11: 17419335 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser)

HGVS:

• NC_000011.10:g.17397788C>T
• NG_008867.1:g.84115G>A
• NM_000352.6:c.3763G>AMANE SELECT
• NM_001287174.3:c.3766G>A
• NM_001351295.2:c.3829G>A
• NM_001351296.2:c.3763G>A
• NM_001351297.2:c.3760G>A
• NP_000343.2:p.Gly1255Ser
• NP_001274103.1:p.Gly1256Ser
• NP_001338224.1:p.Gly1277Ser
• NP_001338225.1:p.Gly1255Ser
• NP_001338226.1:p.Gly1254Ser
• LRG_790t1:c.3763G>A
• LRG_790t2:c.3766G>A
• LRG_790:g.84115G>A
• LRG_790p1:p.Gly1255Ser
• LRG_790p2:p.Gly1256Ser
• NC_000011.9:g.17419335C>T
• NM_000352.3:c.3763G>A
• NR_147094.2:n.3912G>A

This HGVS expression did not pass validation

Protein change:

G1254S

Links:

dbSNP: rs1185034563

NCBI 1000 Genomes Browser:

rs1185034563

Molecular consequence:

• NM_000352.6:c.3763G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287174.3:c.3766G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351295.2:c.3829G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351296.2:c.3763G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351297.2:c.3760G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_147094.2:n.3912G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]