Full data view for gene PRKAR1A

Information The variants shown are described using the NM_002734.4 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.87G>A benign r.(?) p.(=) - - - Unknown g.66511627G>A - PRKAR1A(NM_002734.4):c.87G>A (p.A29=) - PRKAR1A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.221G>A likely benign r.(?) p.(Arg74His) - - - Unknown g.66518940G>A - PRKAR1A(NM_212471.2):c.221G>A (p.R74H) - PRKAR1A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.349-5dup benign r.spl? p.? - - - Unknown g.66519861dup - PRKAR1A(NM_212471.2):c.349-4delCinsTC, PRKAR1A(NM_212471.2):c.349-5_349-4insT - PRKAR1A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.440+15T>C benign r.(=) p.(=) - - - Unknown g.66519972T>C - PRKAR1A(NM_212471.2):c.440+15T>C - PRKAR1A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.491_492del - r.(491_492del) p.(Val164Aspfs*5) - - - Parent #1 g.66520207_66520208del g.68524066_68524067del - - PRKAR1A_000001 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+/. - c.503-2A>T - r.spl p.? - 0.000 - Parent #1 g.66521051A>T - - - PRKAR1A_000002 - - - - Germline - - - 0 - DNA SEQ - - CNC-1 - - - - - Germany - - 0 - - 1 Andreas Laner
+?/. 6 c.507_509delTGA - r.(?) p.(Asp169del) - - - Parent #1 g.66521057_66521059delTGA g.68524916_68524918delTGA - - PRKAR1A_000023 - NOT PUBLISHED - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG peripheral blood - ACRDYS-1 - NOT PUBLISHED - F - (France) - - 0 - - 1 Caroline Silve
-/. - c.550-18A>G benign r.(=) p.(=) - - - Unknown g.66521877A>G - PRKAR1A(NM_002734.4):c.550-18A>G - PRKAR1A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 7 c.622G>A - r.(?) p.(Gly208Arg) - - - Parent #1 g.66521967G>A g.68525826G>A - - PRKAR1A_000021 - NOT PUBLISHED - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG peripheral blood - ACRDYS-1 - NOT PUBLISHED - F - (France) - - 0 - - 1 Caroline Silve
+?/+? 7 c.625A>G - r.(?) p.(Thr209Ala) - - - Maternal (confirmed) g.66521970A>G g.68525829A>G - - PRKAR1A_000004 - PubMed: Elli et al. 2016 - - Germline ? - - 0 - DNA SEQ blood - ACRDYS-1 - PubMed: Elli et al.2016 - F no (Bosnia and Herzegovina) - - 0 - - 1 Francesca Marta Elli
+?/+? 7 c.637G>A - r.(637g>a) p.(Ala213Thr) - - - Unknown g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - DNA SEQ-NG, SEQ blood - ACRDYS-1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-?/-? 7 c.679G>A - r.(679g>a) p.(Asp227Asn) - - - Unknown g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - DNA SEQ-NG, SEQ blood, - autism, BD-E1, BMD/DMD, DFNB;ARNSHL - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 8 c.715A>G - r.(715a>g) p.(Thr239Ala) - - - Unknown g.21889760G>A - - - ALPL_000002 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 9 c.806A>G - r.(806a>g) p.(Asp269Gly) - - - Unknown g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - DNA SEQ-NG, SEQ blood - ACRDYS-1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 9 c.854A>G - r.(854a>g) p.(Gln285Arg) - - - Unknown g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/-? 9 c.866G>A - r.(?) p.(Gly289Glu) - 0.000 - Unknown g.66525107G>A g.68528966G>A - - PRKAR1A_000013 - PubMed: Li et al. 2014 - - De novo ? - - 0 - DNA SEQ blood - ACRDYS-1 - PubMed: Li et al.2014 - F no (China) - - 0 - - 1 Francesca Marta Elli
+?/+? 9 c.866G>A - r.(866g>a) p.(Gly289Glu) - - - Unknown g.66525107G>A g.68528966G>A - - PRKAR1A_000013 - PubMed: Linglart et al. 2012 - - Germline ? - - 0 - DNA SEQ blood - ACRDYS-1 - PubMed: Linglart et al.2012 - M ? - (not applicable) - - 0 - - 1 Francesca Marta Elli
+?/+? 9 c.879C>G - r.(879c>g) p.(Phe293Leu) - - - Unknown g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - DNA SEQ-NG, SEQ blood - ACRDYS-1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 11 c.980T>C - r.(980u>c) p.(Ile327Thr) - - - Parent #1 g.197070442G>T g.197101312G>T - - ASPM_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1 - PubMed: Almomani 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 11 c.983C>T - r.(?) p.(Ala328Val) - - - Unknown g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 11 c.1003C>T - r.(1003c>u) p.(Arg335Cys) - - - Unknown g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - DNA SEQ-NG, SEQ , blood - ACRDYS-1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 11 c.1004G>C - r.(1004g>c) p.(Arg335Pro) - - - Unknown g.66526448G>C g.68530307G>C - - PRKAR1A_000016 - PubMed: Lee et al. 2012 - - Germline ? - - 0 - DNA SEQ blood - ACRDYS-1 - PubMed: Lee et al.2012 - M ? - (not applicable) - - 0 - - 1 Francesca Marta Elli
+?/+? 11 c.1004G>T - r.(1004g>u) p.(Arg335Leu) - - - Unknown g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 11 c.1102C>T - r.(1102c>u) p.(Arg368*) - - - Unknown g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 11 c.1102C>T - r.(1102c>u) p.(Arg368*) - - - Unknown g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 11 c.1102C>T - r.(?) p.(Arg368*) - - - Unknown g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 11 c.1102C>T - r.(?) p.(Arg368*) - - - Unknown g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 11 c.1102C>T - r.(?) p.(Arg368*) - - - Unknown g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 11 c.1102C>T - r.(?) p.(Arg368*) - - - Unknown g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1, autism, BMD/DMD, CF - PubMed: Bell 2011 - M - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 11 c.1102C>T - r.(?) p.(Arg368*) - - - Unknown g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 11 c.1102C>T - r.(?) p.(Arg368*) - - - Unknown g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1, epilepsy - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 11 c.1102C>T - r.(?) p.(Arg368*) - - - Unknown g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 11 c.1102C>T - r.(?) p.(Arg368*) - - - Unknown g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/. 11 c.1102C>T - r.(?) p.(Arg368*) - - - Unknown g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ peripheral blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 11 c.1102C>T - r.(1102c>u) p.(Arg368*) - - - Unknown g.66526546C>T g.68530405C>T - - PRKAR1A_000010 - PubMed: Muhn et al. 2013 - - De novo ? - - 0 - DNA SEQ blood - ACRDYS-1 - PubMed: Muhn et al.2013 - F ? - (not applicable) - - 0 - - 1 Francesca Marta Elli
+?/+? 11 c.1102C>T - r.(1102c>u) p.(Arg368*) - - - Unknown g.66526546C>T g.68530405C>T - - PRKAR1A_000010 - PubMed: Michot et al. 2012 - - Germline ? - - 0 - DNA SEQ blood - ACRDYS-1 - PubMed: Michot et al - F ? - (not applicable) - - 0 - - 1 Francesca Marta Elli
+/+ 11 c.1102C>T - r.(?) p.(Arg368*) - 0.000 - Unknown g.66526546C>T g.68530405C>T - - PRKAR1A_000010 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG-I - - ACRDYS-1 1 - - F no Brazil - >13y 0 - - 1 Karina Silveira
+?/. - c.1102C>T likely pathogenic r.(?) p.(Arg368*) - - - Unknown g.66526546C>T - PRKAR1A(NM_001276289.1):c.1102C>T (p.(Arg368Ter)) - PRKAR1A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1111C>T - r.(?) p.(Gln371*) - - - Maternal (confirmed) g.66526555C>T g.68530414C>T - - PRKAR1A_000022 - NOT PUBLISHED - - Germline yes - - 0 - DNA SEQ-NG peripheral blood - ACRDYS-2 - NOT PUBLISHED 2-generation family, 2 affecteds, (children and mother) M - (France) - - 0 - - 2 Caroline Silve
+/. 11 c.1111C>T - r.(?) p.(Gln371*) - - - Parent #1 g.66526555C>T g.68530414C>T - - PRKAR1A_000022 - NOT PUBLISHED - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG peripheral blood - ACRDYS-1 - NOT PUBLISHED - F - (France) - - 0 - - 1 Caroline Silve
+?/+? 11 c.1114C>T - r.(1114c>u) p.(Gln372*) - - - Unknown g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 11 c.1117T>C - r.(1117u>c) p.(Tyr373His) - - - Unknown g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood, - ACRDYS-1, arthrogryposis - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 11 c.1118A>G - r.(1118a>g) p.(Tyr373Cys) - - - Unknown g.21887209C>T - - - ALPL_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. - c.*7065A>G benign r.(=) p.(=) - - - Unknown g.66533655A>G - - - FAM20A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*11533C>A VUS r.(=) p.(=) - - - Unknown g.66538123C>A - FAM20A(NM_001243746.1):c.695+3G>T - FAM20A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*20673T>G likely benign r.(=) p.(=) - - - Unknown g.66547263T>G - PRKAR1A(NM_001276290.1):c.1012T>G (p.(Ter338GluextTer7)) - FAM20A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend