ClinVar

NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17393125 (on Assembly GRCh38)
• Chr11: 17414672 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter)

HGVS:

• NC_000011.10:g.17393125G>A
• NG_008867.1:g.88778C>T
• NG_012446.1:g.535C>T
• NM_000352.6:c.4612C>TMANE SELECT
• NM_001287174.3:c.4615C>T
• NM_001351295.2:c.4678C>T
• NM_001351296.2:c.4612C>T
• NM_001351297.2:c.4609C>T
• NP_000343.2:p.Arg1538Ter
• NP_001274103.1:p.Arg1539Ter
• NP_001338224.1:p.Arg1560Ter
• NP_001338225.1:p.Arg1538Ter
• NP_001338226.1:p.Arg1537Ter
• LRG_790t1:c.4612C>T
• LRG_790t2:c.4615C>T
• LRG_790:g.88778C>T
• LRG_790p1:p.Arg1538Ter
• LRG_790p2:p.Arg1539Ter
• NC_000011.9:g.17414672G>A
• NM_000352.3:c.4612C>T
• NR_147094.2:n.4907C>T

This HGVS expression did not pass validation

Protein change:

R1537*

Links:

dbSNP: rs1411638309

Molecular consequence:

• NR_147094.2:n.4907C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000352.6:c.4612C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001287174.3:c.4615C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001351295.2:c.4678C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001351296.2:c.4612C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001351297.2:c.4609C>T - nonsense - [Sequence Ontology: SO:0001587]