ClinVar

NM_000156.6(GAMT):c.570+4C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 1398912 (on Assembly GRCh38)
• Chr19: 1398911 (on Assembly GRCh37)

Preferred name:

NM_000156.6(GAMT):c.570+4C>T

HGVS:

• NC_000019.10:g.1398912G>A
• NG_009785.1:g.7642C>T
• NM_000156.6:c.570+4C>TMANE SELECT
• NM_138924.3:c.574C>T
• NP_620279.1:p.Arg192Cys
• NC_000019.9:g.1398911G>A
• NM_000156.5:c.570+4C>T

This HGVS expression did not pass validation

Protein change:

R192C

Links:

dbSNP: rs199967562

NCBI 1000 Genomes Browser:

rs199967562

Molecular consequence:

• NM_000156.6:c.570+4C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_138924.3:c.574C>T - missense variant - [Sequence Ontology: SO:0001583]