ClinVar

NM_006488.3(KHK):c.*469G>A

Genes:

CGREF1:cell growth regulator with EF-hand domain 1 [Gene - OMIM - HGNC]
KHK:ketohexokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 27100219 (on Assembly GRCh38)
• Chr2: 27323087 (on Assembly GRCh37)

Preferred name:

NM_006488.3(KHK):c.*469G>A

HGVS:

• NC_000002.12:g.27100219G>A
• NG_012199.2:g.18477G>A
• NM_000221.3:c.*469G>A
• NM_001166240.2:c.343-379C>T
• NM_001301324.2:c.*20+197C>T
• NM_006488.3:c.*469G>AMANE SELECT
• NC_000002.11:g.27323087G>A
• NM_000221.2:c.*469G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs187387157

NCBI 1000 Genomes Browser:

rs187387157

Molecular consequence:

• NM_000221.3:c.*469G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_006488.3:c.*469G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001166240.2:c.343-379C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001301324.2:c.*20+197C>T - intron variant - [Sequence Ontology: SO:0001627]