Unique variants in the RFXAP gene

Information The variants shown are described using the NM_000538.3 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/., -?/. 2 - c.24G>A r.(?) p.(Glu8=) - benign, likely benign g.37393518G>A g.36819381G>A RFXAP(NM_000538.3):c.24G>A (p.E8=) - RFXAP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.54G>T r.(?) p.(Val18=) - likely benign g.37393548G>T g.36819411G>T RFXAP(NM_000538.3):c.54G>T (p.V18=) - RFXAP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.244G>T r.(?) p.(Glu82Ter) - pathogenic g.37393738G>T g.36819601G>T RFXAP(NM_000538.3):c.244G>T (p.E82*) - RFXAP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.312C>T r.(?) p.(Ser104=) - likely benign g.37393806C>T g.36819669C>T RFXAP(NM_000538.3):c.312C>T (p.S104=) - RFXAP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.333A>G r.(?) p.(Leu111=) - likely benign g.37393827A>G g.36819690A>G RFXAP(NM_000538.3):c.333A>G (p.L111=) - RFXAP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.354G>C r.(?) p.(Ser118=) - likely benign g.37393848G>C - RFXAP(NM_000538.3):c.354G>C (p.S118=) - RFXAP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 2 - c.410T>C r.(?) p.(Met137Thr) - benign, likely benign g.37393904T>C g.36819767T>C RFXAP(NM_000538.3):c.410T>C (p.M137T) - RFXAP_000004 79 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs193240312 CLASSIFICATION record, Germline - 79/2795 individuals - - - VKGL-NL_Utrecht, Mohammed Faruq
-?/. 1 - c.426C>T r.(?) p.(Thr142=) - likely benign g.37393920C>T g.36819783C>T RFXAP(NM_000538.3):c.426C>T (p.T142=) - RFXAP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.430G>A r.(?) p.(Glu144Lys) - VUS g.37393924G>A g.36819787G>A - - RFXAP_000011 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201754085 Germline - 1/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.477G>A r.(?) p.(Pro159=) - likely benign g.37393971G>A g.36819834G>A RFXAP(NM_000538.3):c.477G>A (p.P159=) - RFXAP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., ?/. 2 - c.600+3A>T r.spl? p.? - likely pathogenic, VUS g.37394097A>T g.36819960A>T RFXAP(NM_000538.3):c.600+3A>T - RFXAP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.666A>G r.(?) p.(Ala222=) - likely benign g.37399630A>G g.36825493A>G RFXAP(NM_000538.3):c.666A>G (p.A222=) - RFXAP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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