ClinVar

NM_000170.3(GLDC):c.1931G>A (p.Cys644Tyr)

Gene:

GLDC:glycine decarboxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p24.1

Genomic location:

• Chr9: 6558680 (on Assembly GRCh38)
• Chr9: 6558680 (on Assembly GRCh37)

Preferred name:

NM_000170.3(GLDC):c.1931G>A (p.Cys644Tyr)

HGVS:

• NC_000009.12:g.6558680C>T
• NG_016397.1:g.92013G>A
• NM_000170.3:c.1931G>AMANE SELECT
• NP_000161.2:p.Cys644Tyr
• NP_000161.2:p.Cys644Tyr
• LRG_643t1:c.1931G>A
• LRG_643:g.92013G>A
• LRG_643p1:p.Cys644Tyr
• NC_000009.11:g.6558680C>T
• NM_000170.2:c.1931G>A

This HGVS expression did not pass validation

Protein change:

C644Y

Links:

dbSNP: rs386833535

NCBI 1000 Genomes Browser:

rs386833535

Molecular consequence:

• NM_000170.3:c.1931G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1