Full data view for gene POLR1C

Information The variants shown are described using the NM_203290.2 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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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.-4667C>G r.(?) p.(=) Unknown - likely benign g.43480181C>G g.43512443C>G YIPF3(NM_015388.3):c.901G>C (p.(Glu301Gln)) - YIPF3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4571C>T r.(?) p.(=) Unknown - VUS g.43480277C>T g.43512539C>T YIPF3(NM_015388.3):c.805G>A (p.(Val269Met)) - YIPF3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3911C>T r.(?) p.(=) Unknown - VUS g.43480937C>T g.43513199C>T YIPF3(NM_015388.3):c.536G>A (p.(Arg179Gln)) - YIPF3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1511T>C r.(?) p.(=) Unknown - VUS g.43483337T>C g.43515599T>C YIPF3(NM_015388.3):c.391A>G (p.(Ser131Gly)) - POLR1C_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1127_-1125del r.(?) p.(=) Unknown - VUS g.43483721_43483723del g.43515983_43515985del YIPF3(NM_015388.3):c.194_196del (p.(Asp65del)) - YIPF3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5C>G r.(?) p.(Ala2Gly) Unknown - VUS g.43484852C>G g.43517114C>G POLR1C(NM_203290.2):c.5C>G (p.(Ala2Gly)) - POLR1C_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8C>T r.(?) p.(Ala3Val) Unknown - likely benign g.43484855C>T g.43517117C>T POLR1C(NM_203290.3):c.8C>T (p.A3V) - POLR1C_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.22G>A r.(?) p.(Glu8Lys) Unknown - VUS g.43484869G>A g.43517131G>A - - POLR1C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.31C>T r.(?) p.(Arg11Trp) Unknown - VUS g.43484878C>T g.43517140C>T POLR1C(NM_001363658.1):c.31C>T (p.R11W) - POLR1C_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.65G>A r.(?) p.(Arg22His) Unknown - VUS g.43484912G>A g.43517174G>A POLR1C(NM_001318876.1):c.65G>A (p.(Arg22His)), POLR1C(NM_203290.3):c.65G>A (p.R22H) - POLR1C_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.65G>A r.(?) p.(Arg22His) Unknown - likely benign g.43484912G>A - POLR1C(NM_001318876.1):c.65G>A (p.(Arg22His)), POLR1C(NM_203290.3):c.65G>A (p.R22H) - POLR1C_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.68A>G r.(?) p.(Asn23Ser) Unknown - VUS g.43484915A>G - POLR1C(NM_203290.2):c.68A>G (p.(Asn23Ser)) - POLR1C_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.69+5G>A r.spl? p.? Unknown - VUS g.43484921G>A - POLR1C(NM_001363658.1):c.69+5G>A - POLR1C_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.77C>T r.(?) p.(Thr26Ile) Parent #1 - pathogenic g.43485051C>T g.43517313C>T - - POLR1C_000021 - MORL Deafness Variation Database, PubMed: Thiffault 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Thiffault 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.77C>T r.(?) p.(Thr26Ile) Parent #1 - likely pathogenic (recessive) g.43485051C>T g.43517313C>T - - POLR1C_000021 - PubMed: Mirchi 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HLD Pat29 PubMed: Mirchi 2023 - F - Canada - - - - - 1 Johan den Dunnen
?/? 2 c.79A>G r.(?) p.(Thr27Ala) Parent #1 - VUS g.43485053A>G g.43517315A>G - - POLR1C_000022 - MORL Deafness Variation Database, PubMed: Richards 2015 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Richards 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 2 c.87del r.(?) p.(Gly31Valfs*23) Parent #1 - pathogenic (recessive) g.43485061del g.43517323del 87delT - POLR1C_000023 - PubMed: Dauwerse 2011 - - Germline - - - - - DNA SEQ - - TCS Man42 PubMed: Dauwerse 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Global Variome, with Curator vacancy
+/. 2 c.88C>T r.(?) p.(Pro30Ser) Parent #1 - pathogenic g.43485062C>T g.43517324C>T - - POLR1C_000001 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? 28327206-PatBH4975_1/_4 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.88C>T r.(?) p.(Pro30Ser) Parent #1 - likely pathogenic (recessive) g.43485062C>T g.43517324C>T - - POLR1C_000001 - PubMed: Mirchi 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HLD Pat27 PubMed: Mirchi 2023 - M - Canada - - - - - 1 Johan den Dunnen
+/+ 2 c.95A>T r.(?) p.(Asn32Ile) Parent #1 - pathogenic g.43485069A>T g.43517331A>T - - POLR1C_000024 - MORL Deafness Variation Database, PubMed: Thiffault 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Thiffault 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.116C>T r.(?) p.(Ala39Val) Unknown - likely benign g.43485090C>T g.43517352C>T POLR1C(NM_001318876.1):c.116C>T (p.(Ala39Val)), POLR1C(NM_203290.3):c.116C>T (p.A39V) - POLR1C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.116C>T r.(?) p.(Ala39Val) Unknown - likely benign g.43485090C>T - POLR1C(NM_001318876.1):c.116C>T (p.(Ala39Val)), POLR1C(NM_203290.3):c.116C>T (p.A39V) - POLR1C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.118T>G r.(?) p.(Trp40Gly) Both (homozygous) - VUS g.43485092T>G g.43517354T>G - - POLR1C_000034 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4503 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.131G>A r.(?) p.(Arg44His) Unknown - VUS g.43485105G>A - POLR1C(NM_203290.4):c.131G>A (p.(Arg44His)) - POLR1C_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.193A>G r.(?) p.(Met65Val) Unknown - VUS g.43487122A>G - POLR1C(NM_001363658.1):c.193A>G (p.M65V) - POLR1C_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.221A>G r.(?) p.(Asn74Ser) Parent #1 - pathogenic g.43487150A>G g.43519412A>G - - POLR1C_000025 - MORL Deafness Variation Database, PubMed: Thiffault 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Thiffault 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.221A>G r.(?) p.(Asn74Ser) Both (homozygous) - likely pathogenic (recessive) g.43487150A>G g.43519412A>G - - POLR1C_000025 - PubMed: Mirchi 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HLD Pat30 PubMed: Mirchi 2023 - M - Canada - - - - - 1 Johan den Dunnen
-?/. - c.259A>G r.(?) p.(Met87Val) Unknown - likely benign g.43487453A>G - POLR1C(NM_203290.2):c.259A>G (p.(Met87Val)) - POLR1C_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.320C>T r.(?) p.(Ala107Val) Unknown - VUS g.43487514C>T g.43519776C>T POLR1C(NM_203290.2):c.320C>T (p.(Ala107Val)) - POLR1C_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.326G>A r.(?) p.(Arg109His) Parent #1 - pathogenic g.43487520G>A g.43519782G>A - - POLR1C_000026 - MORL Deafness Variation Database, PubMed: Thiffault 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Thiffault 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.326G>A r.(?) p.(Arg109His) Parent #2 - likely pathogenic (recessive) g.43487520G>A g.43519782G>A - - POLR1C_000026 - PubMed: Mirchi 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HLD Pat29 PubMed: Mirchi 2023 - F - Canada - - - - - 1 Johan den Dunnen
?/. - c.395G>A r.(?) p.(Gly132Asp) Unknown - VUS g.43487816G>A g.43520078G>A POLR1C(NM_203290.3):c.395G>A (p.G132D) - POLR1C_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.421C>T r.(?) p.(Arg141Cys) Unknown - VUS g.43487842C>T g.43520104C>T POLR1C(NM_203290.2):c.421C>T (p.(Arg141Cys)), POLR1C(NM_203290.3):c.421C>T (p.R141C) - POLR1C_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.421C>T r.(?) p.(Arg141Cys) Unknown - VUS g.43487842C>T - POLR1C(NM_203290.2):c.421C>T (p.(Arg141Cys)), POLR1C(NM_203290.3):c.421C>T (p.R141C) - POLR1C_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.436T>C r.(?) p.(Cys146Arg) Parent #1 - pathogenic g.43487857T>C g.43520119T>C - - POLR1C_000027 - MORL Deafness Variation Database, PubMed: Thiffault 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Thiffault 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.490G>A r.(?) p.(Val164Met) Unknown - likely benign g.43487911G>A - POLR1C(NM_001363658.1):c.490G>A (p.V164M), POLR1C(NM_203290.2):c.490G>A (p.(Val164Met)) - POLR1C_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.490G>A r.(?) p.(Val164Met) Unknown - likely benign g.43487911G>A - POLR1C(NM_001363658.1):c.490G>A (p.V164M), POLR1C(NM_203290.2):c.490G>A (p.(Val164Met)) - POLR1C_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.503-7C>T r.(=) p.(=) Unknown - likely benign g.43488006C>T g.43520268C>T POLR1C(NM_203290.2):c.503-7C>T (p.(=)) - POLR1C_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.591C>T r.(=) p.(=) Parent #1 - VUS g.43488101C>T g.43520363C>T - - POLR1C_000028 - MORL Deafness Variation Database, PubMed: Richards 2015 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Richards 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 6 c.614del r.(?) p.(Gly205Alafs*49) Parent #2 - pathogenic g.43488124del g.43520386del - - POLR1C_000002 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? 28327206-PatBH4975_1/_4 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.616del r.(?) p.(Gln206LysfsTer48) Parent #2 - likely pathogenic (recessive) g.43488126del g.43520388del 615del - POLR1C_000041 - PubMed: Mirchi 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HLD Pat27 PubMed: Mirchi 2023 - M - Canada - - - - - 1 Johan den Dunnen
-/. - c.634A>G r.(?) p.(Met212Val) Unknown - benign g.43488144A>G g.43520406A>G POLR1C(NM_203290.2):c.634A>G (p.(Met212Val)), POLR1C(NM_203290.4):c.634A>G (p.M212V) - POLR1C_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.634A>G r.(?) p.(Met212Val) Unknown - likely benign g.43488144A>G g.43520406A>G POLR1C(NM_203290.2):c.634A>G (p.(Met212Val)), POLR1C(NM_203290.4):c.634A>G (p.M212V) - POLR1C_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.634A>G r.(?) p.(Met212Val) Parent #1 - likely benign g.43488144A>G g.43520406A>G - - POLR1C_000005 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79222964 Germline - 11/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 11 Mohammed Faruq
-/. - c.656-9C>T r.(=) p.(=) Unknown - benign g.43488354C>T g.43520616C>T - - POLR1C_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.699C>G r.(?) p.(Tyr233Ter) Parent #1 - likely pathogenic (recessive) g.43488406C>G g.43520668C>G - - POLR1C_000042 - PubMed: Mirchi 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HLD Pat28 PubMed: Mirchi 2023 - F - Canada - - - - - 1 Johan den Dunnen
?/. - c.805+3A>G r.spl? p.? Unknown - VUS g.43488515A>G g.43520777A>G POLR1C(NM_203290.3):c.805+3A>G - POLR1C_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.835C>T r.(?) p.(Arg279Trp) Parent #2 - pathogenic (recessive) g.43488699C>T g.43520961C>T - - POLR1C_000029 - PubMed: Dauwerse 2011 - - Germline - - - - - DNA SEQ - - TCS Man42 PubMed: Dauwerse 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Global Variome, with Curator vacancy
+/. - c.836G>A r.(?) p.(Arg279Gln) Unknown - pathogenic g.43488700G>A - POLR1C(NM_001318876.1):c.836G>A (p.(Arg279Gln)), POLR1C(NM_203290.4):c.836G>A (p.R279Q) - POLR1C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.836G>A r.(?) p.(Arg279Gln) Unknown - likely pathogenic g.43488700G>A - POLR1C(NM_001318876.1):c.836G>A (p.(Arg279Gln)), POLR1C(NM_203290.4):c.836G>A (p.R279Q) - POLR1C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.836G>A r.(?) p.(Arg279Gln) Parent #2 - pathogenic (recessive) g.43488700G>A g.43520962G>A - - POLR1C_000006 - PubMed: Dauwerse 2011 - - Germline yes - - - - DNA SEQ - - TCS EsM5815PatIII3 PubMed: Dauwerse 2011 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives M - - - - - - - 2 Global Variome, with Curator vacancy
+/. - c.836G>A r.(?) p.(Arg279Gln) Parent #2 - pathogenic (recessive) g.43488700G>A g.43520962G>A - - POLR1C_000006 - PubMed: Dauwerse 2011 - - Germline - - - - - DNA SEQ - - TCS EsM17985 PubMed: Dauwerse 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.865C>T r.(?) p.(Arg289Trp) Unknown - VUS g.43488729C>T - POLR1C(NM_001363658.1):c.865C>T (p.R289W) - POLR1C_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.883_885del r.(?) p.(Lys295del) Parent #2 - likely pathogenic (recessive) g.43488747_43488749del g.43521009_43521011del - - POLR1C_000043 - PubMed: Mirchi 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HLD Pat28 PubMed: Mirchi 2023 - F - Canada - - - - - 1 Johan den Dunnen
+/. 8i c.922+3_922+6del r.spl? p.? Parent #1 - pathogenic (recessive) g.43488789_43488792del g.43521051_43521054del c.922+3_c.922+6del - POLR1C_000030 - PubMed: Dauwerse 2011 - - Germline yes - - - - DNA SEQ - - TCS EsM5815PatIII3 PubMed: Dauwerse 2011 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives M - - - - - - - 2 Global Variome, with Curator vacancy
?/. - c.922+7A>G r.(=) p.(=) Unknown - VUS g.43488793A>G - POLR1C(NM_203290.2):c.922+7A>G (p.?) - POLR1C_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.923-5C>T r.spl? p.? Unknown - likely benign g.43488915C>T - POLR1C(NM_203290.4):c.923-5C>T - POLR1C_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.979A>T r.(?) p.(Lys327*) Parent #1 - pathogenic (recessive) g.43488976A>T g.43521238A>T - - POLR1C_000031 - PubMed: Dauwerse 2011 - - Germline - - - - - DNA SEQ - - TCS EsM17985 PubMed: Dauwerse 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1001G>A r.(?) p.(Arg334Gln) Unknown - likely benign g.43488998G>A g.43521260G>A POLR1C(NM_203290.3):c.1001G>A (p.R334Q) - POLR1C_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8026G>A r.(=) p.(=) Unknown - benign g.43497064G>A g.43529326G>A - - XPO5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9485T>C r.(=) p.(=) Unknown - likely benign g.43498523T>C - XPO5(NM_020750.2):c.2580A>G (p.(Gln860=)) - POLR1C_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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