ClinVar

NM_000136.3(FANCC):c.377_378del (p.Arg126fs)

Gene:

FANCC:FA complementation group C [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q22.32

Genomic location:

• Chr9: 95172115 - 95172116 (on Assembly GRCh38)
• Chr9: 97934397 - 97934398 (on Assembly GRCh37)

Preferred name:

NM_000136.3(FANCC):c.377_378del (p.Arg126fs)

HGVS:

• NC_000009.12:g.95172116_95172117del
• NG_011707.1:g.150594_150595del
• NM_000136.3:c.377_378delMANE SELECT
• NM_001243743.2:c.377_378del
• NM_001243744.2:c.377_378del
• NP_000127.2:p.Arg126fs
• NP_001230672.1:p.Arg126fs
• NP_001230673.1:p.Arg126fs
• LRG_497t1:c.377_378del
• LRG_497:g.150594_150595del
• NC_000009.11:g.97934397_97934398del
• NC_000009.11:g.97934398_97934399del
• NM_000136.2:c.376_377del
• NM_000136.2:c.377_378delGA

This HGVS expression did not pass validation

Protein change:

R126fs

Links:

dbSNP: rs1564720637

NCBI 1000 Genomes Browser:

rs1564720637

Molecular consequence:

• NM_000136.3:c.377_378del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001243743.2:c.377_378del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001243744.2:c.377_378del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

2