ClinVar

NM_022725.4(FANCF):c.193C>T (p.Gln65Ter)

Gene:

FANCF:FA complementation group F [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p14.3

Genomic location:

• Chr11: 22625618 (on Assembly GRCh38)
• Chr11: 22647164 (on Assembly GRCh37)

Preferred name:

NM_022725.4(FANCF):c.193C>T (p.Gln65Ter)

HGVS:

• NC_000011.10:g.22625618G>A
• NG_007425.1:g.5224C>T
• NM_022725.4:c.193C>TMANE SELECT
• NP_073562.1:p.Gln65Ter
• LRG_527t1:c.193C>T
• LRG_527:g.5224C>T
• NC_000011.9:g.22647164G>A
• NM_022725.3:c.193C>T

This HGVS expression did not pass validation

Protein change:

Q65*

Links:

dbSNP: rs753272712

NCBI 1000 Genomes Browser:

rs753272712

Molecular consequence:

• NM_022725.4:c.193C>T - nonsense - [Sequence Ontology: SO:0001587]