ClinVar

NM_000030.3(AGXT):c.65A>G (p.Asn22Ser)

Gene:

AGXT:alanine--glyoxylate aminotransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 240868930 (on Assembly GRCh38)
• Chr2: 241808347 (on Assembly GRCh37)

Preferred name:

NM_000030.3(AGXT):c.65A>G (p.Asn22Ser)

HGVS:

• NC_000002.12:g.240868930A>G
• NG_008005.1:g.5186A>G
• NM_000030.3:c.65A>GMANE SELECT
• NP_000021.1:p.Asn22Ser
• NP_000021.1:p.Asn22Ser
• NC_000002.11:g.241808347A>G
• NM_000030.2:c.65A>G
• P21549:p.Asn22Ser

This HGVS expression did not pass validation

Protein change:

N22S

Links:

UniProtKB: P21549#VAR_048236; dbSNP: rs34885252

NCBI 1000 Genomes Browser:

rs34885252

Molecular consequence:

• NM_000030.3:c.65A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1