ClinVar

NM_001017975.6(HFM1):c.3470G>A (p.Cys1157Tyr)

Gene:

HFM1:helicase for meiosis 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.2

Genomic location:

• Chr1: 91276984 (on Assembly GRCh38)
• Chr1: 91742541 (on Assembly GRCh37)

Preferred name:

NM_001017975.6(HFM1):c.3470G>A (p.Cys1157Tyr)

HGVS:

• NC_000001.11:g.91276984C>T
• NG_034120.1:g.132886G>A
• NG_034120.2:g.136023G>A
• NM_001017975.6:c.3470G>AMANE SELECT
• NP_001017975.5:p.Cys1157Tyr
• NC_000001.10:g.91742541C>T
• NR_165455.1:n.3060G>A

This HGVS expression did not pass validation

Protein change:

C1157Y

Molecular consequence:

• NM_001017975.6:c.3470G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_165455.1:n.3060G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1