Full data view for gene PRKACA

Information The variants shown are described using the NM_002730.3 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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.47-551G>A r.(=) p.(=) Unknown - likely benign g.14218772C>T - PRKACA(NM_001304349.2):c.25G>A (p.(Ala9Thr)) - PRKACA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.47-491G>A r.(=) p.(=) Unknown - VUS g.14218712C>T - PRKACA(NM_001304349.2):c.85G>A (p.(Asp29Asn)) - PRKACA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.47-418C>T r.(=) p.(=) Unknown - likely benign g.14218639G>A - PRKACA(NM_001304349.2):c.158C>T (p.(Pro53Leu)) - PRKACA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.47-10T>C r.(=) p.(=) Unknown - likely benign g.14218231A>G - PRKACA(NM_002730.4):c.47-10T>C - PRKACA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.404G>A r.(?) p.(Arg135Gln) Unknown - VUS g.14211653C>T - PRKACA(NM_002730.4):c.404G>A (p.(Arg135Gln)) - PRKACA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.409G>A r.(?) p.(Gly137Arg) Unknown - pathogenic (dominant) g.14211648C>T g.14100836C>T - - PRKACA_000005 mosaic, 811/2858 reads Journal: Palencia-Campos 2020 - - Somatic - - - - - DNA SEQ, SEQ-NG - WES ? P1 Journal: Palencia-Campos 2020 2-generation family, affected father, son, 2 daughters and fetus M - Egypt - - - - - 5 Johan den Dunnen
+/. - c.409G>A r.(?) p.(Gly137Arg) Unknown - pathogenic (dominant) g.14211648C>T g.14100836C>T - - PRKACA_000005 inherited, 41/74 reads Journal: Palencia-Campos 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? P2 Journal: Palencia-Campos 2020 2-generation family, affected mother and fetus F - Belgium - - - - - 2 Johan den Dunnen
+/. - c.409G>A r.(?) p.(Gly137Arg) Unknown - pathogenic (dominant) g.14211648C>T g.14100836C>T - - PRKACA_000005 - Journal: Palencia-Campos 2020 - - De novo - - - - - DNA SEQ - WES ? P3 Journal: Palencia-Campos 2020 2-generation family, unaffected parents, affected fetus - - Italy - - - - - 1 Johan den Dunnen
+/. - c.409G>A r.(?) p.(Gly137Arg) Unknown - pathogenic g.14211648C>T - - - PRKACA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.419+6C>T r.(=) p.(=) Unknown - likely benign g.14211632G>A - PRKACA(NM_002730.4):c.419+6C>T - PRKACA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.424C>A r.(?) p.(Pro142Thr) Unknown - VUS g.14208698G>T - PRKACA(NM_002730.3):c.424C>A (p.(Pro142Thr)) - PRKACA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.574G>A r.(?) p.(Val192Met) Unknown - VUS g.14208459C>T - PRKACA(NM_002730.3):c.574G>A (p.(Val192Met)) - PRKACA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.761G>C r.(?) p.(Gly254Ala) Unknown - VUS g.14208177C>G - PRKACA(NM_002730.4):c.761G>C (p.(Gly254Ala)) - PRKACA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.991T>C r.(?) p.(Tyr331His) Unknown - VUS g.14203989A>G - PRKACA(NM_001304349.1):c.1219T>C (p.Y407H) - PRKACA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3056_*3061del r.(=) p.(=) Unknown - VUS g.14200871_14200876del g.14090059_14090064del SAMD1(NM_138352.1):c.336+29_336+34del (p.(Pro122_Pro123del)) - SAMD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4369G>A r.(=) p.(=) Unknown - VUS g.14199555C>T g.14088743C>T SAMD1(NM_138352.1):c.1068G>A (p.(Trp356Ter)) - SAMD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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