ClinVar

NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 89276777 (on Assembly GRCh38)
• Chr15: 89820008 (on Assembly GRCh37)

Preferred name:

NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=)

HGVS:

• NC_000015.10:g.89276777T>C
• NG_011736.1:g.37815T>C
• NM_001113378.2:c.1179T>CMANE SELECT
• NM_001376910.1:c.900T>C
• NM_001376911.1:c.1179T>C
• NM_018193.3:c.1179T>C
• NP_001106849.1:p.Tyr393=
• NP_001106849.1:p.Tyr393=
• NP_001363839.1:p.Tyr300=
• NP_001363840.1:p.Tyr393=
• NP_060663.2:p.Tyr393=
• LRG_500t1:c.1179T>C
• LRG_500:g.37815T>C
• LRG_500p1:p.Tyr393=
• NC_000015.9:g.89820008T>C
• NM_001113378.1:c.1179T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs3743377

NCBI 1000 Genomes Browser:

rs3743377

Molecular consequence:

• NM_001113378.2:c.1179T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001376910.1:c.900T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001376911.1:c.1179T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_018193.3:c.1179T>C - synonymous variant - [Sequence Ontology: SO:0001819]