ClinVar

NM_000352.6(ABCC8):c.4155C>A (p.Ser1385=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17395895 (on Assembly GRCh38)
• Chr11: 17417442 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.4155C>A (p.Ser1385=)

HGVS:

• NC_000011.10:g.17395895G>T
• NG_008867.1:g.86008C>A
• NM_000352.6:c.4155C>AMANE SELECT
• NM_001287174.3:c.4158C>A
• NM_001351295.2:c.4221C>A
• NM_001351296.2:c.4155C>A
• NM_001351297.2:c.4152C>A
• NP_000343.2:p.Ser1385=
• NP_001274103.1:p.Ser1386=
• NP_001338224.1:p.Ser1407=
• NP_001338225.1:p.Ser1385=
• NP_001338226.1:p.Ser1384=
• LRG_790t1:c.4155C>A
• LRG_790t2:c.4158C>A
• LRG_790:g.86008C>A
• LRG_790p1:p.Ser1385=
• LRG_790p2:p.Ser1386=
• NC_000011.9:g.17417442G>T
• NR_147094.2:n.4450C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1007114942

NCBI 1000 Genomes Browser:

rs1007114942

Molecular consequence:

• NR_147094.2:n.4450C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000352.6:c.4155C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001287174.3:c.4158C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351295.2:c.4221C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351296.2:c.4155C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351297.2:c.4152C>A - synonymous variant - [Sequence Ontology: SO:0001819]