ClinVar

NM_001113378.2(FANCI):c.1810A>G (p.Met604Val)

Gene:

FANCI:FA complementation group I [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 89285207 (on Assembly GRCh38)
• Chr15: 89828438 (on Assembly GRCh37)

Preferred name:

NM_001113378.2(FANCI):c.1810A>G (p.Met604Val)

HGVS:

• NC_000015.10:g.89285207A>G
• NG_011736.1:g.46245A>G
• NM_001113378.2:c.1810A>GMANE SELECT
• NM_001376910.1:c.1531A>G
• NM_001376911.1:c.1810A>G
• NM_018193.3:c.1810A>G
• NP_001106849.1:p.Met604Val
• NP_001106849.1:p.Met604Val
• NP_001363839.1:p.Met511Val
• NP_001363840.1:p.Met604Val
• NP_060663.2:p.Met604Val
• LRG_500t1:c.1810A>G
• LRG_500:g.46245A>G
• LRG_500p1:p.Met604Val
• NC_000015.9:g.89828438A>G
• NM_001113378.1:c.1810A>G

This HGVS expression did not pass validation

Protein change:

M511V

Links:

dbSNP: rs141879625

NCBI 1000 Genomes Browser:

rs141879625

Molecular consequence:

• NM_001113378.2:c.1810A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376910.1:c.1531A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376911.1:c.1810A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_018193.3:c.1810A>G - missense variant - [Sequence Ontology: SO:0001583]