Full data view for gene ARSE

Information The variants shown are described using the NM_000047.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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.410G>C r.(?) p.(G137A) Parent #1 - pathogenic g.2871204C>G g.2953163C>G - - ARSE_000007 - PubMed: Sheffield 1998 - - Germline - - - 0 - DNA SEQ - - CPDX-1 - - - M - - - - 0 - - 1 Claudia Matos-Miranda
+/. 5 c.410G>C r.(?) p.(G137A) Parent #1 - pathogenic g.2871204C>G g.2953163C>G - - ARSE_000007 - PubMed: Sheffield 1998 - - Germline - - - 0 - DNA SEQ - - CPDX-1 - - maternal grandfather of 0007 M - - - - 0 - - 1 Claudia Matos-Miranda
+/. 5 c.410G>C r.(?) p.(G137A) Parent #1 - pathogenic g.2871204C>G g.2953163C>G - - ARSE_000007 - PubMed: Sheffield 1998 - - Germline - - - 0 - DNA SEQ - - ? - - Female carrier, mother of 0007 F - - - - 0 - - 1 Claudia Matos-Miranda
+/. 5 c.410G>C r.(?) p.(G137A) Parent #1 - pathogenic g.2871204C>G g.2953163C>G - - ARSE_000007 - PubMed: Nino 2008 - - Germline - - - 0 - DNA SEQ - - CPDX-1 - - - M - - - - 0 - - 1 Claudia Matos-Miranda
+/. 5 c.410G>C r.(?) p.(G137A) Parent #1 - pathogenic g.2871204C>G g.2953163C>G - - ARSE_000007 - PubMed: Nino 2008 - - Germline - - - 0 - DNA SEQ - - ? - - Female carrier, mother of 0040 F - - - - 0 - - 1 Claudia Matos-Miranda
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