Full data view for gene RMND1

Information The variants shown are described using the NM_017909.3 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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     
+/. 5 c.713A>G r.(?) p.(Asn238Ser) Both (homozygous) - pathogenic g.151751289T>C g.151430154T>C - - RMND1_000002 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - DNA SEQ - - COXPD11 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - - - - ? - - - 1 Johan den Dunnen
+/. 5 c.713A>G r.(?) p.(Asn238Ser) Both (homozygous) - pathogenic g.151751289T>C g.151430154T>C - - RMND1_000002 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - DNA SEQ - - COXPD11 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - - - - ? - - - 1 Johan den Dunnen
+/. 5 c.713A>G r.(?) p.(Asn238Ser) Both (homozygous) - pathogenic g.151751289T>C g.151430154T>C - - RMND1_000002 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - DNA SEQ - - COXPD11 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - - - - ? - - - 1 Johan den Dunnen
+/. 5 c.713A>G r.(?) p.(Asn238Ser) Parent #1 - pathogenic g.151751289T>C g.151430154T>C - - RMND1_000002 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - DNA SEQ - - COXPD11 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - - - - ? - - - 1 Johan den Dunnen
+/. 5 c.713A>G r.(?) p.(Asn238Ser) Parent #1 - pathogenic g.151751289T>C g.151430154T>C - - RMND1_000002 - PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - DNA SEQ - - COXPD11 - PubMed: Ulrick 2016, Journal: Ulrick 2016 - - - - - 1y9m - - - 1 Johan den Dunnen
+/. 5 c.713A>G r.(?) p.(Asn238Ser) Parent #1 - pathogenic g.151751289T>C g.151430154T>C - - RMND1_000002 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - DNA SEQ - - COXPD11 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - - - - ? - - - 1 Johan den Dunnen
+/. 5 c.713A>G r.(?) p.(Asn238Ser) Parent #2 - pathogenic g.151751289T>C g.151430154T>C - - RMND1_000002 - PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - DNA SEQ - - COXPD11 - PubMed: Ulrick 2016, Journal: Ulrick 2016 - - - - - ? - - - 1 Johan den Dunnen
+/. 5 c.713A>G r.(?) p.(Asn238Ser) Parent #2 - pathogenic g.151751289T>C g.151430154T>C - - RMND1_000002 - PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - DNA SEQ - - COXPD11 - PubMed: Ulrick 2016, Journal: Ulrick 2016 - - - - - ? - - - 1 Johan den Dunnen
+/. 5 c.713A>G r.(?) p.(Asn238Ser) Parent #2 - pathogenic g.151751289T>C g.151430154T>C - - RMND1_000002 - PubMed: Janer 2015, Journal: Janer 2015, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - DNA SEQ - - COXPD11 - PubMed: Janer 2015, Journal: Janer 2015, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - - - - 4y2m - - - 1 Johan den Dunnen
+?/. - c.713A>G r.(?) p.(Asn238Ser) Unknown - likely pathogenic g.151751289T>C g.151430154T>C RMND1(NM_017909.4):c.713A>G (p.N238S) - RMND1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.713A>G r.(?) p.(Asn238Ser) Unknown - pathogenic g.151751289T>C g.151430154T>C RMND1(NM_017909.4):c.713A>G (p.N238S) - RMND1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.713A>G r.(?) p.(Asn238Ser) Parent #1 - pathogenic (recessive) g.151751289T>C g.151430154T>C - - RMND1_000002 - PubMed: Taylor 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat6 PubMed: Taylor 2014 - M - United Kingdom (Great Britain) British 5y - - - 1 Johan den Dunnen
+/. - c.713A>G r.(?) p.(Asn238Ser) Unknown - pathogenic g.151751289T>C - RMND1(NM_017909.4):c.713A>G (p.N238S) - RMND1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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