ClinVar

NM_001166222.2(CARNS1):c.1751G>A (p.Arg584Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 67423499 (on Assembly GRCh38)
• Chr11: 67190970 (on Assembly GRCh37)

Preferred name:

NM_001166222.2(CARNS1):c.1751G>A (p.Arg584Gln)

HGVS:

• NC_000011.10:g.67423499G>A
• NM_001166222.2:c.1751G>AMANE SELECT
• NM_001394577.1:c.1661G>A
• NM_001394578.1:c.1382G>A
• NM_001394579.1:c.1382G>A
• NM_020811.2:c.1382G>A
• NP_001159694.1:p.Arg584Gln
• NP_001381506.1:p.Arg554Gln
• NP_001381507.1:p.Arg461Gln
• NP_001381508.1:p.Arg461Gln
• NP_065862.1:p.Arg461Gln
• NC_000011.9:g.67190970G>A
• NM_001166222.1:c.1751G>A

This HGVS expression did not pass validation

Protein change:

R461Q

Molecular consequence:

• NM_001166222.2:c.1751G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001394577.1:c.1661G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001394578.1:c.1382G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001394579.1:c.1382G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020811.2:c.1382G>A - missense variant - [Sequence Ontology: SO:0001583]