Full data view for gene RNF170

Information The variants shown are described using the NM_030954.3 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.-689G>A r.(?) p.(=) Unknown - benign g.42752308C>T - HOOK3(NM_032410.4):c.34C>T (p.L12=) - HOOK3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-7-7A>C r.(=) p.(=) Unknown - likely benign g.42743021T>G - RNF170(NM_030954.4):c.-7-7A>C - RNF170_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.213+62_*2865{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.42704626_42729012delinsTTTTGGT g.42849483_42873869delinsTTTTGGT del ex4-7, chr8:g.42704626_42729012delinsTTTTGGT - RNF170_000014 - PubMed: Wagner 2019, PubMed: Yepez 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - - SPG FamCPat4;R31640 PubMed: Wagner 2019, PubMed: Yepez 2022 5-generation family, affected nephew/niece, unaffected heterozygous carrier parents F yes Tunisia - - - - - 2 Johan den Dunnen
?/. - c.113C>T r.(?) p.(Ala38Val) Unknown - VUS g.42742895G>A g.42887752G>A RNF170(NM_001160223.1):c.113C>T (p.A38V), RNF170(NM_001160223.2):c.113C>T (p.A38V), RNF170(NM_030954.4):c.113C>T (p.(Ala38Val)) - RNF170_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.113C>T r.(?) p.(Ala38Val) Unknown - likely benign g.42742895G>A g.42887752G>A RNF170(NM_001160223.1):c.113C>T (p.A38V), RNF170(NM_001160223.2):c.113C>T (p.A38V), RNF170(NM_030954.4):c.113C>T (p.(Ala38Val)) - RNF170_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.113C>T r.(?) p.(Ala38Val) Unknown - likely benign g.42742895G>A - RNF170(NM_001160223.1):c.113C>T (p.A38V), RNF170(NM_001160223.2):c.113C>T (p.A38V), RNF170(NM_030954.4):c.113C>T (p.(Ala38Val)) - RNF170_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.211C>T r.(?) p.(Gln71*) Unknown - VUS g.42729076G>A - RNF170(NM_001160223.1):c.211C>T (p.Q71*) - RNF170_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.213G>C r.(?) p.(Gln71His) Unknown - VUS g.42729074C>G - RNF170(NM_001160223.2):c.213G>C (p.Q71H) - RNF170_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.291G>A r.(?) p.(Pro97=) Unknown - benign g.42725178C>T g.42870035C>T RNF170(NM_001160223.1):c.291G>A (p.P97=) - RNF170_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.304T>C r.(?) p.(Cys102Arg) Both (homozygous) - pathogenic (recessive) g.42725165A>G g.42870022A>G - - RNF170_000016 - PubMed: Wagner 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - - SPG FamBPat3 PubMed: Wagner 2019 4-generation family, affected brothers/sisters (F, 3M), unaffected heterozygous carrier parents M yes Iran Baluch - - - - 4 Johan den Dunnen
+/. - c.304T>C r.(?) p.(Cys102Arg) Both (homozygous) - pathogenic (recessive) g.42725165A>G g.42870022A>G - - RNF170_000016 - PubMed: Wagner 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - - SPG FamBPat4 PubMed: Wagner 2019 brother M yes Iran Baluch - - - - 1 Johan den Dunnen
+/. - c.304T>C r.(?) p.(Cys102Arg) Both (homozygous) - pathogenic (recessive) g.42725165A>G g.42870022A>G - - RNF170_000016 - PubMed: Wagner 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - - SPG FamBPat5 PubMed: Wagner 2019 sister F yes Iran Baluch - - - - 1 Johan den Dunnen
+/. - c.304T>C r.(?) p.(Cys102Arg) Both (homozygous) - pathogenic (recessive) g.42725165A>G g.42870022A>G - - RNF170_000016 - PubMed: Wagner 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - - SPG FamBPat6 PubMed: Wagner 2019 brother M yes Iran Baluch - - - - 1 Johan den Dunnen
-/. - c.322+13C>T r.(=) p.(=) Unknown - benign g.42725134G>A g.42869991G>A RNF170(NM_001160223.1):c.322+13C>T - RNF170_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.374G>A r.(?) p.(Ser125Asn) Unknown - benign g.42720581C>T g.42865438C>T RNF170(NM_001160223.1):c.374G>A (p.S125N), RNF170(NM_001160223.2):c.374G>A (p.S125N) - RNF170_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.374G>A r.(?) p.(Ser125Asn) Unknown - likely benign g.42720581C>T g.42865438C>T RNF170(NM_001160223.1):c.374G>A (p.S125N), RNF170(NM_001160223.2):c.374G>A (p.S125N) - RNF170_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.396+3A>G r.323_396del p.Ala109AsnfsTer9 Both (homozygous) - pathogenic (recessive) g.42720556T>C g.42865413T>C - - RNF170_000013 - PubMed: Wagner 2019, PubMed: Yepez 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - - SPG FamAPat4;R31640 PubMed: Wagner 2019, PubMed: Yepez 2022 3-generation family, affected brother/sister, unaffected heterozygous carrier parents F - Germany - - - - - 2 Johan den Dunnen
+/. - c.396+3A>G r.323_396del p.Ala109AsnfsTer9 Both (homozygous) - pathogenic (recessive) g.42720556T>C g.42865413T>C - - RNF170_000013 - PubMed: Wagner 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - - SPG FamAPat5 PubMed: Wagner 2019 sister M - Germany - - - - - 1 Johan den Dunnen
-?/. - c.397-14dup r.(=) p.(=) Unknown - likely benign g.42717020dup g.42861877dup RNF170(NM_001160223.1):c.397-14dupT, RNF170(NM_001160223.2):c.397-14dupT - RNF170_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.397-14dup r.(=) p.(=) Unknown - likely benign g.42717020dup g.42861877dup RNF170(NM_001160223.1):c.397-14dupT, RNF170(NM_001160223.2):c.397-14dupT - RNF170_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.518_519del r.(?) p.(Arg173AsnfsTer49) Both (homozygous) - pathogenic (recessive) g.42711564_42711565del g.42856421_42856422del 518_519delAG - RNF170_000015 - PubMed: Wagner 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - - SPG FamDPat3 PubMed: Wagner 2019 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Iran Fars - - - - 2 Johan den Dunnen
+/. - c.518_519del r.(?) p.(Arg173AsnfsTer49) Both (homozygous) - pathogenic (recessive) g.42711564_42711565del g.42856421_42856422del 518_519delAG - RNF170_000015 - PubMed: Wagner 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - - SPG FamDPat4 PubMed: Wagner 2019 brother M yes Iran Fars - - - - 1 Johan den Dunnen
-?/. - c.562A>G r.(?) p.(Met188Val) Unknown - likely benign g.42711517T>C - RNF170(NM_030954.4):c.562A>G (p.(Met188Val)) - RNF170_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.596G>A r.(?) p.(Arg199His) Unknown - VUS g.42711483C>T - RNF170(NM_001160223.1):c.596G>A (p.R199H) - RNF170_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.640A>G r.(?) p.(Ile214Val) Parent #1 - likely pathogenic g.42711439T>C g.42856296T>C - - RNF170_000011 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587780441 Germline - 9/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
?/. - c.695A>G r.(?) p.(Asp232Gly) Unknown - VUS g.42711384T>C g.42856241T>C - - RNF170_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5171_*5173del r.(=) p.(=) Unknown - likely benign g.42706129_42706131del - RNF170(NM_001160224.1):c.406_408delGAG (p.(Glu136del)) - RNF170_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5254C>T r.(=) p.(=) Unknown - VUS g.42706048G>A - RNF170(NM_001160224.1):c.489C>T (p.V163=) - RNF170_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5288G>A r.(=) p.(=) Unknown - benign g.42706014C>T g.42850871C>T RNF170(NM_001160224.1):c.523G>A (p.D175N), RNF170(NM_001160224.2):c.523G>A (p.D175N) - RNF170_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5288G>A r.(=) p.(=) Unknown - benign g.42706014C>T g.42850871C>T RNF170(NM_001160224.1):c.523G>A (p.D175N), RNF170(NM_001160224.2):c.523G>A (p.D175N) - RNF170_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5315C>T r.(=) p.(=) Unknown - likely benign g.42705987G>A g.42850844G>A RNF170(NM_001160224.2):c.550C>T (p.R184C) - RNF170_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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