ClinVar

NM_000352.6(ABCC8):c.1608T>A (p.Phe536Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17442742 (on Assembly GRCh38)
• Chr11: 17464289 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.1608T>A (p.Phe536Leu)

HGVS:

• NC_000011.10:g.17442742A>T
• NG_008867.1:g.39161T>A
• NM_000352.6:c.1608T>AMANE SELECT
• NM_001287174.3:c.1608T>A
• NM_001351295.2:c.1608T>A
• NM_001351296.2:c.1605T>A
• NM_001351297.2:c.1605T>A
• NP_000343.2:p.Phe536Leu
• NP_001274103.1:p.Phe536Leu
• NP_001338224.1:p.Phe536Leu
• NP_001338225.1:p.Phe535Leu
• NP_001338226.1:p.Phe535Leu
• LRG_790t1:c.1608T>A
• LRG_790t2:c.1608T>A
• LRG_790:g.39161T>A
• LRG_790p1:p.Phe536Leu
• LRG_790p2:p.Phe536Leu
• NC_000011.9:g.17464289A>T
• NR_147094.2:n.1674T>A

This HGVS expression did not pass validation

Protein change:

F535L

Links:

dbSNP: rs753618932

NCBI 1000 Genomes Browser:

rs753618932

Molecular consequence:

• NM_000352.6:c.1608T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287174.3:c.1608T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351295.2:c.1608T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351296.2:c.1605T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351297.2:c.1605T>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_147094.2:n.1674T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]