ClinVar

NM_000352.6(ABCC8):c.4532T>C (p.Ile1511Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17394279 (on Assembly GRCh38)
• Chr11: 17415826 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.4532T>C (p.Ile1511Thr)

HGVS:

• NC_000011.10:g.17394279A>G
• NG_008867.1:g.87624T>C
• NM_000352.4:c.4532T>C
• NM_000352.6:c.4532T>CMANE SELECT
• NM_001287174.3:c.4535T>C
• NM_001351295.2:c.4598T>C
• NM_001351296.2:c.4532T>C
• NM_001351297.2:c.4529T>C
• NP_000343.2:p.Ile1511Thr
• NP_001274103.1:p.Ile1512Thr
• NP_001338224.1:p.Ile1533Thr
• NP_001338225.1:p.Ile1511Thr
• NP_001338226.1:p.Ile1510Thr
• LRG_790t1:c.4532T>C
• LRG_790t2:c.4535T>C
• LRG_790:g.87624T>C
• LRG_790p1:p.Ile1511Thr
• LRG_790p2:p.Ile1512Thr
• NC_000011.9:g.17415826A>G
• NR_147094.2:n.4827T>C

This HGVS expression did not pass validation

Protein change:

I1510T

Molecular consequence:

• NM_000352.6:c.4532T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287174.3:c.4535T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351295.2:c.4598T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351296.2:c.4532T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351297.2:c.4529T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_147094.2:n.4827T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]