ClinVar

NM_000143.4(FH):c.647A>T (p.Asp216Val)

Gene:

FH:fumarate hydratase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 241508694 (on Assembly GRCh38)
• Chr1: 241671994 (on Assembly GRCh37)

Preferred name:

NM_000143.4(FH):c.647A>T (p.Asp216Val)

HGVS:

• NC_000001.11:g.241508694T>A
• NG_012338.1:g.16061A>T
• NM_000143.4:c.647A>TMANE SELECT
• NP_000134.2:p.Asp216Val
• NP_000134.2:p.Asp216Val
• LRG_504t1:c.647A>T
• LRG_504:g.16061A>T
• LRG_504p1:p.Asp216Val
• NC_000001.10:g.241671994T>A
• NM_000143.3:c.647A>T

This HGVS expression did not pass validation

Protein change:

D216V

Links:

dbSNP: rs1553341348

NCBI 1000 Genomes Browser:

rs1553341348

Molecular consequence:

• NM_000143.4:c.647A>T - missense variant - [Sequence Ontology: SO:0001583]