ClinVar

NM_000137.4(FAH):c.864C>T (p.Cys288=)

Gene:

FAH:fumarylacetoacetate hydrolase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q25.1

Genomic location:

• Chr15: 80175042 (on Assembly GRCh38)
• Chr15: 80467384 (on Assembly GRCh37)

Preferred name:

NM_000137.4(FAH):c.864C>T (p.Cys288=)

HGVS:

• NC_000015.10:g.80175042C>T
• NG_012833.1:g.27044C>T
• NM_000137.4:c.864C>TMANE SELECT
• NM_001374377.1:c.864C>T
• NM_001374380.1:c.864C>T
• NP_000128.1:p.Cys288=
• NP_001361306.1:p.Cys288=
• NP_001361309.1:p.Cys288=
• NC_000015.9:g.80467384C>T
• NM_000137.2:c.864C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs370273424

NCBI 1000 Genomes Browser:

rs370273424

Molecular consequence:

• NM_000137.4:c.864C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374377.1:c.864C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374380.1:c.864C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2