ClinVar

NM_014967.5(FAN1):c.1090A>C (p.Asn364His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q13.3

Genomic location:

• Chr15: 30905753 (on Assembly GRCh38)
• Chr15: 31197956 (on Assembly GRCh37)

Preferred name:

NM_014967.5(FAN1):c.1090A>C (p.Asn364His)

HGVS:

• NC_000015.10:g.30905753A>C
• NG_032946.2:g.6902A>C
• NM_001146094.2:c.1090A>C
• NM_001146095.1:c.1090A>C
• NM_001146096.2:c.1090A>C
• NM_014967.5:c.1090A>CMANE SELECT
• NP_001139566.1:p.Asn364His
• NP_001139567.1:p.Asn364His
• NP_001139568.1:p.Asn364His
• NP_055782.3:p.Asn364His
• NC_000015.9:g.31197956A>C
• NM_014967.4:c.1090A>C

This HGVS expression did not pass validation

Protein change:

N364H

Links:

dbSNP: rs187082481

NCBI 1000 Genomes Browser:

rs187082481

Molecular consequence:

• NM_001146094.2:c.1090A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001146095.1:c.1090A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001146096.2:c.1090A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_014967.5:c.1090A>C - missense variant - [Sequence Ontology: SO:0001583]