ClinVar

NM_054012.4(ASS1):c.1A>G (p.Met1Val)

Gene:

ASS1:argininosuccinate synthase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 130452229 (on Assembly GRCh38)
• Chr9: 133327616 (on Assembly GRCh37)

Preferred name:

NM_054012.4(ASS1):c.1A>G (p.Met1Val)

HGVS:

• NC_000009.12:g.130452229A>G
• NG_011542.1:g.12523A>G
• NM_000050.4:c.1A>G
• NM_054012.4:c.1A>GMANE SELECT
• NP_000041.2:p.Met1Val
• NP_446464.1:p.Met1Val
• NC_000009.11:g.133327616A>G

This HGVS expression did not pass validation

Protein change:

M1V

Links:

dbSNP: rs750780742

NCBI 1000 Genomes Browser:

rs750780742

Molecular consequence:

• NM_000050.4:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_054012.4:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_000050.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_054012.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]