FAAP24

FA core complex associated protein 24

Summary

FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]

Known Variants28 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7245980	19:33,464,048	A/G	—	benign
rs1971463038	19:33,464,119	C/T	—	uncertain significance
rs530097367	19:33,464,123	T/C	—	likely benign
rs34151845	19:33,464,131	G/C	—	benign
rs1230523746	19:33,464,145	C/A	—	uncertain significance
rs780149743	19:33,464,167	A/T	—	uncertain significance
rs73037453	19:33,464,225	T/C	—	benign
rs555157808	19:33,465,005	C/T	—	uncertain significance
rs78628256	19:33,465,006	G/A	—	benign
rs146829849	19:33,465,034	A/G	—	likely benign
rs1971486258	19:33,465,038	A/G	—	uncertain significance
rs148951579	19:33,465,052	G/A	—	likely benign
rs752443144	19:33,465,077	G/C	—	uncertain significance
rs36017455	19:33,465,099	T/C	—	benign
rs1352538271	19:33,465,114	A/C	—	uncertain significance
rs201990820	19:33,465,128	G/A	—	likely benign
rs111516300	19:33,466,343	C/T	upstream gene variant	—
rs2513797643	19:33,467,356	A/G	—	uncertain significance
rs2304102	19:33,467,357	A/G	—	benign
rs147085502	19:33,467,466	C/T	—	uncertain significance
rs149477674	19:33,467,502	A/G	—	uncertain significance
rs753742037	19:33,467,507	T/G	—	uncertain significance
rs3816032	19:33,467,515	T/C	—	benign
rs114896387	19:33,467,537	C/T	—	benign
rs370813858	19:33,467,538	G/A	—	uncertain significance
rs148106526	19:33,467,575	C/T	—	conflicting classifications of pathogenicity
rs7258185	19:33,467,576	G/A	—	benign
rs7247715	19:33,467,620	T/C	—	benign

Gene information from NCBI Gene. Variant classifications from ClinVar.