ClinVar

NM_000143.4(FH):c.63C>T (p.Ala21=)

Gene:

FH:fumarate hydratase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 241519660 (on Assembly GRCh38)
• Chr1: 241682960 (on Assembly GRCh37)

Preferred name:

NM_000143.4(FH):c.63C>T (p.Ala21=)

HGVS:

• NC_000001.11:g.241519660G>A
• NG_012338.1:g.5095C>T
• NM_000143.4:c.63C>TMANE SELECT
• NP_000134.2:p.Ala21=
• NP_000134.2:p.Ala21=
• LRG_504t1:c.63C>T
• LRG_504:g.5095C>T
• LRG_504p1:p.Ala21=
• NC_000001.10:g.241682960G>A
• NM_000143.3:c.63C>T
• p.A21A

This HGVS expression did not pass validation

Links:

dbSNP: rs555404867

NCBI 1000 Genomes Browser:

rs555404867

Molecular consequence:

• NM_000143.4:c.63C>T - synonymous variant - [Sequence Ontology: SO:0001819]