Full data view for gene POLR2C

Information The variants shown are described using the NM_032940.2 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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.-4461C>G r.(?) p.(=) Unknown - likely benign g.57492176C>G - COQ9(NM_020312.4):c.625C>G (p.L209V) - COQ9_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3144G>A r.(?) p.(=) Unknown - VUS g.57493493G>A - COQ9(NM_020312.4):c.728G>A (p.(Arg243His)) - CIAPIN1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3046C>T r.(?) p.(=) Unknown - VUS g.57493591C>T g.57459679C>T COQ9(NM_020312.3):c.826C>T (p.R276W), COQ9(NM_020312.4):c.826C>T (p.R276W) - COQ9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3046C>T r.(?) p.(=) Unknown - likely benign g.57493591C>T - COQ9(NM_020312.3):c.826C>T (p.R276W), COQ9(NM_020312.4):c.826C>T (p.R276W) - COQ9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3037G>A r.(?) p.(=) Unknown - likely benign g.57493600G>A g.57459688G>A COQ9(NM_020312.3):c.835G>A (p.D279N), COQ9(NM_020312.4):c.835G>A (p.D279N) - CIAPIN1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3037G>A r.(?) p.(=) Unknown - likely benign g.57493600G>A g.57459688G>A COQ9(NM_020312.3):c.835G>A (p.D279N), COQ9(NM_020312.4):c.835G>A (p.D279N) - CIAPIN1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3008G>C r.(?) p.(=) Unknown - benign g.57493629G>C g.57459717G>C COQ9(NM_020312.4):c.864G>C (p.K288N) - COQ9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2664C>T r.(?) p.(=) Unknown - VUS g.57493973C>T g.57460061C>T COQ9(NM_020312.4):c.878C>T (p.T293I) - COQ9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2610C>A r.(?) p.(=) Unknown - likely benign g.57494027C>A g.57460115C>A COQ9(NM_020312.4):c.921+11C>A - CIAPIN1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2610C>A r.(?) p.(=) Unknown - likely benign g.57494027C>A - COQ9(NM_020312.4):c.921+11C>A - CIAPIN1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2608C>T r.(?) p.(=) Unknown - benign g.57494029C>T g.57460117C>T COQ9(NM_020312.4):c.921+13C>T - CIAPIN1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2608C>T r.(?) p.(=) Unknown - likely benign g.57494029C>T - COQ9(NM_020312.4):c.921+13C>T - CIAPIN1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.545T>C r.(?) p.(Val182Ala) Both (homozygous) ACMG likely pathogenic (recessive) g.57503978T>C g.57470066T>C - - POLR2C_000001 ACMG PM1, PM2, PP1, PP2 PubMed: Varshney 2023, Journal: Varshney 2023 RCV001093632.1 - Germline yes - - - - DNA SEQ-NG-I - - ? FamPatIII1 PubMed: Varshney 2023, Journal: Varshney 2023 4-generation family, 5 affected (5M), unaffected heterozygous carrier parents/relatives M yes Iran - 30y - - - 5 Ehsan Jafarinia
+?/. - c.545T>C r.(?) p.(Val182Ala) Both (homozygous) ACMG likely pathogenic (recessive) g.57503978T>C g.57470066T>C - - POLR2C_000001 ACMG PM1, PM2, PP1, PP2 PubMed: Varshney 2023, Journal: Varshney 2023 RCV001093632.1 - Germline yes - - - - DNA SEQ - - ? FamPatIII4 PubMed: Varshney 2023, Journal: Varshney 2023 brother M yes Iran - - - - - 1 Ehsan Jafarinia
+?/. - c.545T>C r.(?) p.(Val182Ala) Both (homozygous) ACMG likely pathogenic (recessive) g.57503978T>C g.57470066T>C - - POLR2C_000001 ACMG PM1, PM2, PP1, PP2 PubMed: Varshney 2023, Journal: Varshney 2023 RCV001093632.1 - Germline yes - - - - DNA SEQ - - ? FamPatIII6 PubMed: Varshney 2023, Journal: Varshney 2023 relative M yes Iran - - - - - 1 Ehsan Jafarinia
+?/. - c.545T>C r.(?) p.(Val182Ala) Both (homozygous) ACMG likely pathogenic (recessive) g.57503978T>C g.57470066T>C - - POLR2C_000001 ACMG PM1, PM2, PP1, PP2 PubMed: Varshney 2023, Journal: Varshney 2023 RCV001093632.1 - Germline yes - - - - DNA SEQ - - ? FamPatIII8 PubMed: Varshney 2023, Journal: Varshney 2023 brother relative M yes Iran - - - - - 1 Ehsan Jafarinia
+?/. - c.545T>C r.(?) p.(Val182Ala) Both (homozygous) ACMG likely pathogenic (recessive) g.57503978T>C g.57470066T>C - - POLR2C_000001 ACMG PM1, PM2, PP1, PP2 PubMed: Varshney 2023, Journal: Varshney 2023 RCV001093632.1 - Germline yes - - - - DNA SEQ - - ? FamPatIII12 PubMed: Varshney 2023, Journal: Varshney 2023 brother relative M yes Iran - - - - - 1 Ehsan Jafarinia
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