ClinVar

NM_000352.6(ABCC8):c.4651C>T (p.Leu1551=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17393086 (on Assembly GRCh38)
• Chr11: 17414633 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.4651C>T (p.Leu1551=)

HGVS:

• NC_000011.10:g.17393086G>A
• NG_008867.1:g.88817C>T
• NG_012446.1:g.574C>T
• NM_000352.6:c.4651C>TMANE SELECT
• NM_001287174.3:c.4654C>T
• NM_001351295.2:c.4717C>T
• NM_001351296.2:c.4651C>T
• NM_001351297.2:c.4648C>T
• NP_000343.2:p.Leu1551=
• NP_001274103.1:p.Leu1552=
• NP_001338224.1:p.Leu1573=
• NP_001338225.1:p.Leu1551=
• NP_001338226.1:p.Leu1550=
• LRG_790t1:c.4651C>T
• LRG_790t2:c.4654C>T
• LRG_790:g.88817C>T
• LRG_790p1:p.Leu1551=
• LRG_790p2:p.Leu1552=
• NC_000011.9:g.17414633G>A
• NR_147094.2:n.4946C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_147094.2:n.4946C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000352.6:c.4651C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001287174.3:c.4654C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351295.2:c.4717C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351296.2:c.4651C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351297.2:c.4648C>T - synonymous variant - [Sequence Ontology: SO:0001819]