ClinVar

NM_020937.4(FANCM):c.876G>T (p.Pro292=)

Gene:

FANCM:FA complementation group M [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q21.2

Genomic location:

• Chr14: 45148953 (on Assembly GRCh38)
• Chr14: 45618156 (on Assembly GRCh37)

Preferred name:

NM_020937.4(FANCM):c.876G>T (p.Pro292=)

HGVS:

• NC_000014.9:g.45148953G>T
• NG_007417.1:g.18021G>T
• NM_001308133.2:c.798G>T
• NM_001308134.2:c.876G>T
• NM_020937.3:c.876G>T
• NM_020937.4:c.876G>TMANE SELECT
• NP_001295062.1:p.Pro266=
• NP_001295063.1:p.Pro292=
• NP_065988.1:p.Pro292=
• LRG_502t1:c.876G>T
• LRG_502:g.18021G>T
• NC_000014.8:g.45618156G>T
• NM_020937.2:c.876G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs150757891

NCBI 1000 Genomes Browser:

rs150757891

Molecular consequence:

• NM_001308133.2:c.798G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001308134.2:c.876G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020937.4:c.876G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1