ClinVar

NM_206965.2(FTCD):c.1313C>T (p.Ala438Val)

Gene:

FTCD:formimidoyltransferase cyclodeaminase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 46138638 (on Assembly GRCh38)
• Chr21: 47558552 (on Assembly GRCh37)

Preferred name:

NM_206965.2(FTCD):c.1313C>T (p.Ala438Val)

HGVS:

• NC_000021.9:g.46138638G>A
• NG_016191.1:g.21930C>T
• NM_001320412.2:c.1313C>T
• NM_006657.3:c.1313C>T
• NM_206965.2:c.1313C>TMANE SELECT
• NP_001307341.1:p.Ala438Val
• NP_006648.1:p.Ala438Val
• NP_996848.1:p.Ala438Val
• NC_000021.8:g.47558552G>A
• NM_006657.2:c.1313C>T

This HGVS expression did not pass validation

Protein change:

A438V

Links:

dbSNP: rs61735841

NCBI 1000 Genomes Browser:

rs61735841

Molecular consequence:

• NM_001320412.2:c.1313C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006657.3:c.1313C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_206965.2:c.1313C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2