ClinVar

NM_001166222.2(CARNS1):c.2767C>T (p.Arg923Cys)

Gene:

CARNS1:carnosine synthase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 67424515 (on Assembly GRCh38)
• Chr11: 67191986 (on Assembly GRCh37)

Preferred name:

NM_001166222.2(CARNS1):c.2767C>T (p.Arg923Cys)

HGVS:

• NC_000011.10:g.67424515C>T
• NM_001166222.2:c.2767C>TMANE SELECT
• NM_001394577.1:c.2677C>T
• NM_001394578.1:c.2398C>T
• NM_001394579.1:c.2398C>T
• NM_020811.2:c.2398C>T
• NP_001159694.1:p.Arg923Cys
• NP_001381506.1:p.Arg893Cys
• NP_001381507.1:p.Arg800Cys
• NP_001381508.1:p.Arg800Cys
• NP_065862.1:p.Arg800Cys
• NC_000011.9:g.67191986C>T
• NM_001166222.1:c.2767C>T

This HGVS expression did not pass validation

Protein change:

R800C

Molecular consequence:

• NM_001166222.2:c.2767C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001394577.1:c.2677C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001394578.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001394579.1:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_020811.2:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]