ClinVar

NM_000137.4(FAH):c.1181-204G>A

Gene:

FAH:fumarylacetoacetate hydrolase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q25.1

Genomic location:

• Chr15: 80185926 (on Assembly GRCh38)
• Chr15: 80478268 (on Assembly GRCh37)

Preferred name:

NM_000137.4(FAH):c.1181-204G>A

HGVS:

• NC_000015.10:g.80185926G>A
• NG_012833.1:g.37928G>A
• NM_000137.4:c.1181-204G>AMANE SELECT
• NM_001374377.1:c.1181-204G>A
• NM_001374380.1:c.1181-204G>A
• NC_000015.9:g.80478268G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs12898576

NCBI 1000 Genomes Browser:

rs12898576

Molecular consequence:

• NM_000137.4:c.1181-204G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374377.1:c.1181-204G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374380.1:c.1181-204G>A - intron variant - [Sequence Ontology: SO:0001627]