ClinVar

NM_000352.6(ABCC8):c.3489C>T (p.Phe1163=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17404580 (on Assembly GRCh38)
• Chr11: 17426127 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.3489C>T (p.Phe1163=)

HGVS:

• NC_000011.10:g.17404580G>A
• NG_008867.1:g.77323C>T
• NM_000352.6:c.3489C>TMANE SELECT
• NM_001287174.3:c.3492C>T
• NM_001351295.2:c.3555C>T
• NM_001351296.2:c.3489C>T
• NM_001351297.2:c.3486C>T
• NP_000343.2:p.Phe1163=
• NP_001274103.1:p.Phe1164=
• NP_001338224.1:p.Phe1185=
• NP_001338225.1:p.Phe1163=
• NP_001338226.1:p.Phe1162=
• LRG_790t1:c.3489C>T
• LRG_790t2:c.3492C>T
• LRG_790:g.77323C>T
• LRG_790p1:p.Phe1163=
• LRG_790p2:p.Phe1164=
• NC_000011.9:g.17426127G>A
• NR_147094.2:n.3638C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1456297535

NCBI 1000 Genomes Browser:

rs1456297535

Molecular consequence:

• NR_147094.2:n.3638C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000352.6:c.3489C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001287174.3:c.3492C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351295.2:c.3555C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351296.2:c.3489C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351297.2:c.3486C>T - synonymous variant - [Sequence Ontology: SO:0001819]