ClinVar

NM_004341.5(CAD):c.3748G>A (p.Val1250Met)

Gene:

CAD:carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 27234647 (on Assembly GRCh38)
• Chr2: 27457515 (on Assembly GRCh37)

Preferred name:

NM_004341.5(CAD):c.3748G>A (p.Val1250Met)

HGVS:

• NC_000002.12:g.27234647G>A
• NG_046394.1:g.22258G>A
• NM_001306079.2:c.3559G>A
• NM_004341.3:c.3748G>A
• NM_004341.5:c.3748G>AMANE SELECT
• NP_001293008.1:p.Val1187Met
• NP_004332.2:p.Val1250Met
• NC_000002.11:g.27457515G>A

This HGVS expression did not pass validation

Protein change:

V1187M

Links:

dbSNP: rs760772756

NCBI 1000 Genomes Browser:

rs760772756

Molecular consequence:

• NM_001306079.2:c.3559G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004341.5:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1