Full data view for gene ARSE

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

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0 Parent #1 g.(?_2852872)_(2878442_?)del - - - ARSE_000020 deletion full ARSE gene submitted 2009 - - Germline - - - 0 - DNA SEQ - - CPDX-1 - - - M - - - - 0 - - 1 Gene Dx
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0 Parent #1 g.(?_2852872)_(2878442_?)del - - - ARSE_000020 deletion full ARSE gene submitted 2009 - - Germline - - - 0 - DNA SEQ - - ? - - Female carrier, mother of 0075 F - - - - 0 - - 1 Gene Dx
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0 Parent #1 g.(?_2852872)_(2878442_?)del - - - ARSE_000020 deletion full ARSE gene submitted 2009 - - Germline - - - 0 - DNA SEQ - - CPDX-1 - - - M - - - - 0 - - 1 Gene Dx
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0 Parent #1 g.(?_2852872)_(2878442_?)del - - - ARSE_000020 deletion full ARSE gene submitted 2009 - - Germline - - - 0 - DNA SEQ - - CPDX-1 - - - M - - - - 0 - - 1 Gene Dx
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0 Parent #1 g.(?_2852872)_(2878442_?)del - - - ARSE_000020 deletion full ARSE gene PubMed: Brunetti-Pierri 2003 - - Germline - - - 0 - DNA SEQ - - CPDX-1 - - - M - - - - 0 - - 1 Claudia Matos-Miranda
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0 Parent #1 g.(?_2852872)_(2878442_?)del - - - ARSE_000020 deletion full ARSE gene PubMed: Brunetti-Pierri 2003 - - Germline - - - 0 - DNA SEQ - - CPDX-1 - - - M - - - - 0 - - 1 Claudia Matos-Miranda
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0 Parent #1 g.(?_2852872)_(2878442_?)del - - - ARSE_000020 deletion full ARSE gene PubMed: Nino 2008 - - Germline - - - 0 - DNA SEQ - - CPDX-1 - - - M - - - - 0 - - 1 Claudia Matos-Miranda
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0 Parent #1 g.(?_2852872)_(2878442_?)del - - - ARSE_000020 deletion full ARSE gene submitted 2009 - - Germline - - - 0 - DNA SEQ - - CPDX-1 - - - M - - - - 0 - - 1 Gene Dx
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0 Parent #1 g.(?_2852872)_(2878442_?)del - - - ARSE_000020 deletion full ARSE gene submitted 2009 - - Germline - - - 0 - DNA SEQ - - ? - - Female carrier, mother of 0071 F - - - - 0 - - 1 Gene Dx
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0 Parent #1 g.(?_2852872)_(2878442_?)del - - - ARSE_000020 deletion full ARSE gene submitted 2009 - - Germline - - - 0 - DNA SEQ - - ? - - Female carrier, sister of 0072 F - - - - 0 - - 1 Gene Dx
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0 Parent #1 g.(?_2852872)_(2878442_?)del - - - ARSE_000020 deletion full ARSE gene submitted 2009 - - Germline - - - 0 - DNA SEQ - - ? - - Female carrier, sister of 0071 F - - - - 0 - - 1 Gene Dx
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