ClinVar

NM_020937.4(FANCM):c.527C>T (p.Thr176Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q21.2

Genomic location:

• Chr14: 45137087 (on Assembly GRCh38)
• Chr14: 45606290 (on Assembly GRCh37)

Preferred name:

NM_020937.4(FANCM):c.527C>T (p.Thr176Ile)

HGVS:

• NC_000014.9:g.45137087C>T
• NG_007417.1:g.6155C>T
• NM_001308133.2:c.527C>T
• NM_001308134.2:c.527C>T
• NM_020937.4:c.527C>TMANE SELECT
• NP_001295062.1:p.Thr176Ile
• NP_001295063.1:p.Thr176Ile
• NP_065988.1:p.Thr176Ile
• LRG_502t1:c.527C>T
• LRG_502:g.6155C>T
• NC_000014.8:g.45606290C>T
• NM_020937.2:c.527C>T
• NM_020937.3:c.527C>T

This HGVS expression did not pass validation

Protein change:

T176I

Links:

dbSNP: rs77374493

NCBI 1000 Genomes Browser:

rs77374493

Molecular consequence:

• NM_001308133.2:c.527C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308134.2:c.527C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_020937.4:c.527C>T - missense variant - [Sequence Ontology: SO:0001583]