ClinVar

NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17393090 (on Assembly GRCh38)
• Chr11: 17414637 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=)

HGVS:

• NC_000011.10:g.17393090G>A
• NG_008867.1:g.88813C>T
• NG_012446.1:g.570C>T
• NM_000352.6:c.4647C>TMANE SELECT
• NM_001287174.3:c.4650C>T
• NM_001351295.2:c.4713C>T
• NM_001351296.2:c.4647C>T
• NM_001351297.2:c.4644C>T
• NP_000343.2:p.Ile1549=
• NP_001274103.1:p.Ile1550=
• NP_001338224.1:p.Ile1571=
• NP_001338225.1:p.Ile1549=
• NP_001338226.1:p.Ile1548=
• LRG_790t1:c.4647C>T
• LRG_790t2:c.4650C>T
• LRG_790:g.88813C>T
• LRG_790p1:p.Ile1549=
• LRG_790p2:p.Ile1550=
• NC_000011.9:g.17414637G>A
• NM_000352.3:c.4647C>T
• NM_000352.4:c.4647C>T
• NR_147094.2:n.4942C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs367862706

NCBI 1000 Genomes Browser:

rs367862706

Molecular consequence:

• NR_147094.2:n.4942C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000352.6:c.4647C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001287174.3:c.4650C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351295.2:c.4713C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351296.2:c.4647C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351297.2:c.4644C>T - synonymous variant - [Sequence Ontology: SO:0001819]