ClinVar

NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17395659 (on Assembly GRCh38)
• Chr11: 17417206 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)

HGVS:

• NC_000011.10:g.17395659G>A
• NG_008867.1:g.86244C>T
• NM_000352.6:c.4258C>TMANE SELECT
• NM_001287174.3:c.4261C>T
• NM_001351295.2:c.4324C>T
• NM_001351296.2:c.4258C>T
• NM_001351297.2:c.4255C>T
• NP_000343.2:p.Arg1420Cys
• NP_001274103.1:p.Arg1421Cys
• NP_001338224.1:p.Arg1442Cys
• NP_001338225.1:p.Arg1420Cys
• NP_001338226.1:p.Arg1419Cys
• LRG_790t1:c.4258C>T
• LRG_790t2:c.4261C>T
• LRG_790:g.86244C>T
• LRG_790p1:p.Arg1420Cys
• LRG_790p2:p.Arg1421Cys
• NC_000011.9:g.17417206G>A
• NM_000352.3:c.4258C>T
• NM_000352.4:c.4258C>T
• NM_001287174.1:c.4261C>T
• NR_147094.2:n.4553C>T

This HGVS expression did not pass validation

Protein change:

R1419C; ARG1421CYS

Links:

OMIM: 600509.0009; dbSNP: rs28938469

NCBI 1000 Genomes Browser:

rs28938469

Molecular consequence:

• NM_000352.6:c.4258C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287174.3:c.4261C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351295.2:c.4324C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351296.2:c.4258C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351297.2:c.4255C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_147094.2:n.4553C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]