ClinVar

NM_022725.4(FANCF):c.1A>C (p.Met1Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p14.3

Genomic location:

• Chr11: 22625810 (on Assembly GRCh38)
• Chr11: 22647356 (on Assembly GRCh37)

Preferred name:

NM_022725.4(FANCF):c.1A>C (p.Met1Leu)

HGVS:

• NC_000011.10:g.22625810T>G
• NG_007425.1:g.5032A>C
• NM_022725.4:c.1A>CMANE SELECT
• NP_073562.1:p.Met1Leu
• LRG_527t1:c.1A>C
• LRG_527:g.5032A>C
• NC_000011.9:g.22647356T>G
• NM_022725.3:c.1A>C

This HGVS expression did not pass validation

Protein change:

M1L

Links:

dbSNP: rs1046564488

NCBI 1000 Genomes Browser:

rs1046564488

Molecular consequence:

• NM_022725.4:c.1A>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_022725.4:c.1A>C - missense variant - [Sequence Ontology: SO:0001583]