ClinVar

NM_014967.5(FAN1):c.698G>A (p.Gly233Glu)

Gene:

FAN1:FANCD2 and FANCI associated nuclease 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q13.3

Genomic location:

• Chr15: 30905361 (on Assembly GRCh38)
• Chr15: 31197564 (on Assembly GRCh37)

Preferred name:

NM_014967.5(FAN1):c.698G>A (p.Gly233Glu)

HGVS:

• NC_000015.10:g.30905361G>A
• NG_032946.2:g.6510G>A
• NM_001146094.2:c.698G>A
• NM_001146095.1:c.698G>A
• NM_001146096.2:c.698G>A
• NM_014967.5:c.698G>AMANE SELECT
• NP_001139566.1:p.Gly233Glu
• NP_001139567.1:p.Gly233Glu
• NP_001139568.1:p.Gly233Glu
• NP_055782.3:p.Gly233Glu
• NC_000015.9:g.31197564G>A
• NM_014967.4:c.698G>A
• Q9Y2M0:p.Gly233Glu

This HGVS expression did not pass validation

Protein change:

G233E

Links:

UniProtKB: Q9Y2M0#VAR_037167; dbSNP: rs4779794

NCBI 1000 Genomes Browser:

rs4779794

Molecular consequence:

• NM_001146094.2:c.698G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001146095.1:c.698G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001146096.2:c.698G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014967.5:c.698G>A - missense variant - [Sequence Ontology: SO:0001583]