Full data view for gene NRROS

Information The variants shown are described using the NM_198565.1 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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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.29T>C r.(?) p.(Leu10Pro) Maternal (confirmed) - pathogenic (recessive) g.196381439T>C g.196654568T>C - - NRROS_000006 - PubMed: Dong 2020, Journal: Dong 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam4PatII2 PubMed: Dong 2020, Journal: Dong 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Finland;Germany;Bulgaria - - - - - 1 Johan den Dunnen
-?/. - c.70G>A r.(?) p.(Gly24Arg) Unknown - likely benign g.196381480G>A - NRROS(NM_198565.1):c.70G>A (p.(Gly24Arg)) - NRROS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.179G>A r.(?) p.(Arg60Gln) Unknown - likely benign g.196386693G>A - NRROS(NM_198565.1):c.179G>A (p.(Arg60Gln)) - NRROS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.190del r.(?) p.(Leu64Trpfs*81) Paternal (confirmed) - pathogenic (recessive) g.196386704del g.196659833del 190delC - NRROS_000005 - PubMed: Dong 2020, Journal: Dong 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam4PatII2 PubMed: Dong 2020, Journal: Dong 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Finland;Germany;Bulgaria - - - - - 1 Johan den Dunnen
?/. - c.602T>C r.(?) p.(Phe201Ser) Unknown - VUS g.196387116T>C - NRROS(NM_198565.3):c.602T>C (p.F201S) - NRROS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1644del r.(?) p.(Thr549Profs*82) Both (homozygous) - pathogenic (recessive) g.196388158del g.196661287del 1644delG - NRROS_000004 - PubMed: Dong 2020, Journal: Dong 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam3PatII3 PubMed: Dong 2020, Journal: Dong 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Italy Sicily - - - - 1 Johan den Dunnen
+?/. 3 c.1796G>A r.(?) p.(Cys599Tyr) Unknown - likely pathogenic g.196388310G>A g.196661439G>A - - NRROS_000001 might be associated with 46,XY DSD with gonadal dysgenesis phenotype PubMed: Calvel 2015 - - De novo - - - - - DNA SEQ-NG - - ?, WDSTS - PubMed: Calvel 2015 2-generation family, affected boy and brother (different variants/phenotypes) F - Poland - - - - - 2 Guorui Hu
+?/. 3 c.1796G>A r.(?) p.(Cys599Tyr) Unknown - likely pathogenic g.196388310G>A g.196661439G>A - - NRROS_000001 might be associated with 46,XY DSD with gonadal dysgenesis phenotype PubMed: Calvel 2015 - - De novo - - - - - DNA SEQ-NG - - ?, WDSTS - PubMed: Calvel 2015 2-generation family, affected boy and brother (different variants/phenotypes) F - Poland - - - - - 2 Guorui Hu
+/. - c.1981del r.(?) p.(Leu661Serfs*97) Both (homozygous) - pathogenic (recessive) g.196388495del g.196661624del 1981delC - NRROS_000003 - PubMed: Dong 2020, Journal: Dong 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam1PatII2 PubMed: Dong 2020, Journal: Dong 2020 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents, 1 from triplet F yes Iraq - 4y2m - - - 3 Johan den Dunnen
+/. - c.1981del r.(?) p.(Leu661Serfs*97) Both (homozygous) - pathogenic (recessive) g.196388495del g.196661624del 1981delC - NRROS_000003 - PubMed: Dong 2020, Journal: Dong 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam1PatII3 PubMed: Dong 2020, Journal: Dong 2020 2 from triplet M yes Iraq - 3y3m - - - 1 Johan den Dunnen
+/. - c.1981del r.(?) p.(Leu661Serfs*97) Both (homozygous) - pathogenic (recessive) g.196388495del g.196661624del 1981delC - NRROS_000003 - PubMed: Dong 2020, Journal: Dong 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam1PatII4 PubMed: Dong 2020, Journal: Dong 2020 sister F yes Iraq - - - - - 1 Johan den Dunnen
+/. - c.1981del r.(?) p.(Leu661Serfs*97) Both (homozygous) - pathogenic (recessive) g.196388495del g.196661624del 1981delC - NRROS_000003 - PubMed: Dong 2020, Journal: Dong 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam2PatII2 PubMed: Dong 2020, Journal: Dong 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Iraq - 2y2m - - - 1 Johan den Dunnen
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