ClinVar

NM_001113378.2(FANCI):c.3604G>C (p.Gly1202Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 89307625 (on Assembly GRCh38)
• Chr15: 89850856 (on Assembly GRCh37)

Preferred name:

NM_001113378.2(FANCI):c.3604G>C (p.Gly1202Arg)

HGVS:

• NC_000015.10:g.89307625G>C
• NG_008218.2:g.32171C>G
• NG_011736.1:g.68663G>C
• NM_001113378.2:c.3604G>CMANE SELECT
• NM_001376910.1:c.3325G>C
• NM_001376911.1:c.3604G>C
• NM_018193.3:c.3424G>C
• NP_001106849.1:p.Gly1202Arg
• NP_001106849.1:p.Gly1202Arg
• NP_001363839.1:p.Gly1109Arg
• NP_001363840.1:p.Gly1202Arg
• NP_060663.2:p.Gly1142Arg
• LRG_500t1:c.3604G>C
• LRG_500:g.68663G>C
• LRG_500p1:p.Gly1202Arg
• LRG_765:g.32171C>G
• NC_000015.9:g.89850856G>C
• NM_001113378.1:c.3604G>C

This HGVS expression did not pass validation

Protein change:

G1109R

Links:

dbSNP: rs747326740

NCBI 1000 Genomes Browser:

rs747326740

Molecular consequence:

• NM_001113378.2:c.3604G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376910.1:c.3325G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001376911.1:c.3604G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_018193.3:c.3424G>C - missense variant - [Sequence Ontology: SO:0001583]