ClinVar

NM_000156.6(GAMT):c.521G>T (p.Trp174Leu)

Gene:

GAMT:guanidinoacetate N-methyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 1398965 (on Assembly GRCh38)
• Chr19: 1398964 (on Assembly GRCh37)

Preferred name:

NM_000156.6(GAMT):c.521G>T (p.Trp174Leu)

HGVS:

• NC_000019.10:g.1398965C>A
• NG_009785.1:g.7589G>T
• NM_000156.6:c.521G>TMANE SELECT
• NM_138924.3:c.521G>T
• NP_000147.1:p.Trp174Leu
• NP_620279.1:p.Trp174Leu
• NC_000019.9:g.1398964C>A
• NC_000019.9:g.1398964C>A
• NM_000156.5:c.521G>T

This HGVS expression did not pass validation

Protein change:

W174L

Links:

dbSNP: rs200444143

NCBI 1000 Genomes Browser:

rs200444143

Molecular consequence:

• NM_000156.6:c.521G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_138924.3:c.521G>T - missense variant - [Sequence Ontology: SO:0001583]