ClinVar

NM_000156.6(GAMT):c.17C>T (p.Ala6Val)

Genes:

LOC130062945:ATAC-STARR-seq lymphoblastoid silent region 9707 [Gene]
GAMT:guanidinoacetate N-methyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 1401460 (on Assembly GRCh38)
• Chr19: 1401459 (on Assembly GRCh37)

Preferred name:

NM_000156.6(GAMT):c.17C>T (p.Ala6Val)

Other names:

p.A6V:GCG>GTG

HGVS:

• NC_000019.10:g.1401460G>A
• NG_009785.1:g.5094C>T
• NM_000156.6:c.17C>TMANE SELECT
• NM_138924.3:c.17C>T
• NP_000147.1:p.Ala6Val
• NP_620279.1:p.Ala6Val
• NC_000019.9:g.1401459G>A
• NM_000156.4:c.17C>T
• NM_000156.5:c.17C>T

This HGVS expression did not pass validation

Protein change:

A6V

Links:

dbSNP: rs796052529

NCBI 1000 Genomes Browser:

rs796052529

Molecular consequence:

• NM_000156.6:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_138924.3:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]