Full data view for gene PDGFRA

Information The variants shown are described using the NM_006206.4 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.17C>T r.(?) p.(Pro6Leu) Unknown - VUS g.55124952C>T g.54258785C>T PDGFRA(NM_006206.4):c.17C>T (p.(Pro6Leu)) - PDGFRA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.201C>T r.(?) p.(Ser67=) Unknown - likely benign g.55127413C>T g.54261246C>T PDGFRA(NM_006206.4):c.201C>T (p.S67=) - PDGFRA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.236G>A r.(?) p.(Gly79Asp) Unknown - likely benign g.55127448G>A g.54261281G>A PDGFRA(NM_006206.4):c.236G>A (p.G79D) - PDGFRA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.236G>A r.(?) p.(Gly79Asp) Parent #1 - likely benign g.55127448G>A g.54261281G>A - - PDGFRA_000004 20 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs36035373 Germline - 20/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 20 Mohammed Faruq
?/. - c.236G>A r.(?) p.(Gly79Asp) Unknown - VUS g.55127448G>A g.54261281G>A 236G>A - PDGFRA_000004 - PubMed: Duvvari 2016 - rs36035373 Germline - - - 0 - DNA SEQ, SEQ-NG - WES retinal disease Pat4AB PubMed: Duvvari 2016 patient - - - white - 0 - - 1 LOVD
-?/. - c.249G>A r.(?) p.(Thr83=) Unknown - likely benign g.55127461G>A g.54261294G>A PDGFRA(NM_006206.4):c.249G>A (p.T83=) - PDGFRA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.276G>A r.(?) p.(Ala92=) Unknown - likely benign g.55127488G>A g.54261321G>A PDGFRA(NM_006206.4):c.276G>A (p.A92=) - PDGFRA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.368-3C>T r.spl? p.? Unknown - benign g.55129831C>T g.54263664C>T PDGFRA(NM_006206.4):c.368-3C>T (p.?, ) - PDGFRA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.368-3C>T r.spl? p.? Unknown - benign g.55129831C>T g.54263664C>T PDGFRA(NM_006206.4):c.368-3C>T (p.?, ) - PDGFRA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.637G>C r.(?) p.(Glu213Gln) Unknown - likely benign g.55131094G>C g.54264927G>C PDGFRA(NM_006206.4):c.637G>C (p.E213Q) - PDGFRA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.661C>T r.(?) p.(Leu221Phe) Unknown - likely benign g.55131118C>T g.54264951C>T PDGFRA(NM_001347830.1):c.700C>T (p.L234F), PDGFRA(NM_006206.4):c.661C>T (p.L221F) - PDGFRA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.661C>T r.(?) p.(Leu221Phe) Unknown - likely benign g.55131118C>T g.54264951C>T PDGFRA(NM_001347830.1):c.700C>T (p.L234F), PDGFRA(NM_006206.4):c.661C>T (p.L221F) - PDGFRA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.661C>T r.(?) p.(Leu221Phe) Unknown - likely benign g.55131118C>T - PDGFRA(NM_001347830.1):c.700C>T (p.L234F), PDGFRA(NM_006206.4):c.661C>T (p.L221F) - PDGFRA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.672G>A r.(?) p.(Val224=) Unknown - benign g.55131129G>A g.54264962G>A PDGFRA(NM_006206.4):c.672G>A (p.V224=) - PDGFRA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.996C>T r.(?) p.(Val332=) Unknown - likely benign g.55133783C>T g.54267616C>T PDGFRA(NM_006206.4):c.996C>T (p.V332=) - PDGFRA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.996C>T r.(?) p.(Val332=) Unknown - likely benign g.55133783C>T g.54267616C>T PDGFRA(NM_006206.4):c.996C>T (p.V332=) - PDGFRA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1113G>A r.(?) p.(Gln371=) Unknown - likely benign g.55133900G>A g.54267733G>A PDGFRA(NM_006206.4):c.1113G>A (p.Q371=) - PDGFRA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1238-8T>C r.(=) p.(=) Unknown - likely benign g.55138553T>C g.54272386T>C PDGFRA(NM_006206.4):c.1238-8T>C (p.(=)) - PDGFRA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1285G>A r.(?) p.(Gly429Arg) Unknown - likely benign g.55138608G>A g.54272441G>A PDGFRA(NM_006206.4):c.1285G>A (p.G429R) - PDGFRA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1365A>G r.(?) p.(Lys455=) Unknown - likely benign g.55139704A>G g.54273537A>G PDGFRA(NM_006206.4):c.1365A>G (p.K455=) - PDGFRA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1388C>G r.(?) p.(Thr463Ser) Unknown - likely benign g.55139727C>G g.54273560C>G PDGFRA(NM_006206.4):c.1388C>G (p.T463S) - PDGFRA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1631T>C r.(?) p.(Val544Ala) Unknown - likely benign g.55140770T>C g.54274603T>C PDGFRA(NM_006206.4):c.1631T>C (p.V544A) - PDGFRA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1657C>G r.(?) p.(Pro553Ala) Unknown - VUS g.55141011C>G g.54274844C>G - - PDGFRA_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1683C>T r.(?) p.(Val561=) Unknown - likely benign g.55141037C>T g.54274870C>T PDGFRA(NM_006206.4):c.1683C>T (p.(=)) - PDGFRA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1700C>T r.(?) p.(Pro567Leu) Parent #1 - VUS g.55141054C>T g.54274887C>T - - PDGFRA_000025 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201503614 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-/. - c.1701A>G r.(?) p.(Pro567=) Unknown - benign g.55141055A>G g.54274888A>G PDGFRA(NM_006206.4):c.1701A>G (p.P567=) - PDGFRA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2323+1120C>T r.(=) p.(=) Parent #1 - VUS g.55147769C>T g.54281602C>T - - PDGFRA_000026 no interpretation available; 175 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2291591 Germline - 175/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 175 Mohammed Faruq
?/. - c.2323+1120C>T r.(=) p.(=) Both (homozygous) - VUS g.55147769C>T g.54281602C>T - - PDGFRA_000026 no interpretation available; 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2291591 Germline - 4/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 4 Mohammed Faruq
+/. - c.2546A>G r.(?) p.(Tyr849Cys) Parent #1 - pathogenic g.55152114A>G g.54285947A>G - - PDGFRA_000001 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.2778C>T r.(?) p.(Tyr926=) Unknown - benign g.55155179C>T g.54289012C>T PDGFRA(NM_006206.4):c.2778C>T (p.Y926=) - PDGFRA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2778C>T r.(?) p.(Tyr926=) Unknown - likely benign g.55155179C>T g.54289012C>T PDGFRA(NM_006206.4):c.2778C>T (p.Y926=) - PDGFRA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2897A>G r.(?) p.(His966Arg) Unknown - VUS g.55156496A>G g.54290329A>G PDGFRA(NM_006206.4):c.2897A>G (p.H966R) - PDGFRA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3098A>T r.(?) p.(Asp1033Val) Parent #1 - likely benign g.55156697A>T g.54290530A>T - - PDGFRA_000027 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201874958 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.3155C>T r.(?) p.(Thr1052Met) Unknown - VUS g.55161324C>T g.54295157C>T PDGFRA(NM_006206.4):c.3155C>T (p.T1052M) - PDGFRA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3156G>A r.(?) p.(Thr1052=) Unknown - likely benign g.55161325G>A - PDGFRA(NM_001347830.1):c.3195G>A (p.T1065=) - PDGFRA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3222T>C r.(?) p.(Asp1074=) Unknown - benign g.55161391T>C g.54295224T>C PDGFRA(NM_006206.4):c.3222T>C (p.D1074=) - PDGFRA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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