ClinVar

NM_000143.4(FH):c.648T>A (p.Asp216Glu)

Gene:

FH:fumarate hydratase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 241508693 (on Assembly GRCh38)
• Chr1: 241671993 (on Assembly GRCh37)

Preferred name:

NM_000143.4(FH):c.648T>A (p.Asp216Glu)

HGVS:

• NC_000001.11:g.241508693A>T
• NG_012338.1:g.16062T>A
• NM_000143.4:c.648T>AMANE SELECT
• NP_000134.2:p.Asp216Glu
• NP_000134.2:p.Asp216Glu
• LRG_504t1:c.648T>A
• LRG_504:g.16062T>A
• LRG_504p1:p.Asp216Glu
• NC_000001.10:g.241671993A>T
• NM_000143.3:c.648T>A

This HGVS expression did not pass validation

Protein change:

D216E

Links:

dbSNP: rs199536615

NCBI 1000 Genomes Browser:

rs199536615

Molecular consequence:

• NM_000143.4:c.648T>A - missense variant - [Sequence Ontology: SO:0001583]