ClinVar

NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17395852 (on Assembly GRCh38)
• Chr11: 17417399 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)

Other names:

NM_000352.6(ABCC8):c.4198G>A

HGVS:

• NC_000011.10:g.17395852C>T
• NG_008867.1:g.86051G>A
• NM_000352.6:c.4198G>AMANE SELECT
• NM_001287174.3:c.4201G>A
• NM_001351295.2:c.4264G>A
• NM_001351296.2:c.4198G>A
• NM_001351297.2:c.4195G>A
• NP_000343.2:p.Gly1400Arg
• NP_001274103.1:p.Gly1401Arg
• NP_001338224.1:p.Gly1422Arg
• NP_001338225.1:p.Gly1400Arg
• NP_001338226.1:p.Gly1399Arg
• LRG_790t1:c.4198G>A
• LRG_790t2:c.4201G>A
• LRG_790:g.86051G>A
• LRG_790p1:p.Gly1400Arg
• LRG_790p2:p.Gly1401Arg
• NC_000011.9:g.17417399C>T
• NM_000352.3:c.4198G>A
• NM_000352.4:c.4198G>A
• NM_000352.5:c.4198G>A
• NR_147094.2:n.4493G>A

This HGVS expression did not pass validation

Protein change:

G1399R; GLY1401ARG

Links:

OMIM: 600509.0025; dbSNP: rs137852676

NCBI 1000 Genomes Browser:

rs137852676

Molecular consequence:

• NM_000352.6:c.4198G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287174.3:c.4201G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351295.2:c.4264G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351296.2:c.4198G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351297.2:c.4195G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_147094.2:n.4493G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]