ClinVar

NM_000137.4(FAH):c.150T>C (p.Phe50=)

Gene:

FAH:fumarylacetoacetate hydrolase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q25.1

Genomic location:

• Chr15: 80158128 (on Assembly GRCh38)
• Chr15: 80450470 (on Assembly GRCh37)

Preferred name:

NM_000137.4(FAH):c.150T>C (p.Phe50=)

HGVS:

• NC_000015.10:g.80158128T>C
• NG_012833.1:g.10130T>C
• NM_000137.4:c.150T>CMANE SELECT
• NM_001374377.1:c.150T>C
• NM_001374380.1:c.150T>C
• NP_000128.1:p.Phe50=
• NP_001361306.1:p.Phe50=
• NP_001361309.1:p.Phe50=
• NC_000015.9:g.80450470T>C
• NM_000137.2:c.150T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs186471906

NCBI 1000 Genomes Browser:

rs186471906

Molecular consequence:

• NM_000137.4:c.150T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374377.1:c.150T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374380.1:c.150T>C - synonymous variant - [Sequence Ontology: SO:0001819]