ClinVar

NM_020937.4(FANCM):c.92G>T (p.Arg31Leu)

Genes:

LOC130055524:ATAC-STARR-seq lymphoblastoid active region 8299 [Gene]
FANCM:FA complementation group M [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q21.2

Genomic location:

• Chr14: 45136123 (on Assembly GRCh38)
• Chr14: 45605326 (on Assembly GRCh37)

Preferred name:

NM_020937.4(FANCM):c.92G>T (p.Arg31Leu)

HGVS:

• NC_000014.9:g.45136123G>T
• NG_007417.1:g.5191G>T
• NM_001308133.2:c.92G>T
• NM_001308134.2:c.92G>T
• NM_020937.2:c.92G>T
• NM_020937.4:c.92G>TMANE SELECT
• NP_001295062.1:p.Arg31Leu
• NP_001295063.1:p.Arg31Leu
• NP_065988.1:p.Arg31Leu
• LRG_502:g.5191G>T
• NC_000014.8:g.45605326G>T

This HGVS expression did not pass validation

Protein change:

R31L

Links:

dbSNP: rs886050496

NCBI 1000 Genomes Browser:

rs886050496

Molecular consequence:

• NM_001308133.2:c.92G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308134.2:c.92G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_020937.4:c.92G>T - missense variant - [Sequence Ontology: SO:0001583]