Full data view for gene ASL

Information The variants shown are described using the NM_000048.3 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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     
+/. 6i c.446+1G>A r.349_446del p.del21 Parent #2 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - argininosuccinic aciduria - - - F - Netherlands - - - - - 1 Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 Parent #2 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - argininosuccinic aciduria - - - F - Netherlands - - - - - 1 Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 Parent #2 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - argininosuccinic aciduria - - - M - Netherlands - - - - - 1 Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 Parent #2 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - argininosuccinic aciduria - - - F - Netherlands - - - - - 1 Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 Parent #2 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - argininosuccinic aciduria - - - F - Bulgaria - - - - - 1 Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 Parent #1 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - argininosuccinic aciduria - - - M - China - - - - - 1 Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 Parent #2 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - argininosuccinic aciduria - - - M - China - - - - - 1 Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 Parent #2 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - argininosuccinic aciduria - - - M - Czech Republic - - - - - 1 Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 Parent #2 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - argininosuccinic aciduria - - - M - Netherlands - - - - - 1 Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 Parent #1 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - argininosuccinic aciduria - - - F - Netherlands - - - - - 1 Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 Parent #2 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - argininosuccinic aciduria - - - F - Netherlands - - - - - 1 Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 Parent #2 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - argininosuccinic aciduria - - - M - Netherlands - - - - - 1 Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 Parent #2 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - argininosuccinic aciduria - - - M - Netherlands - - - - - 1 Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 Parent #2 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - argininosuccinic aciduria - - - M - Netherlands - - - - - 1 Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 Parent #2 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 - PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - argininosuccinic aciduria - - - M - Germany Egyptian - - - - 1 Johan den Dunnen
+/. - c.446+1G>A r.spl? p.? Unknown - pathogenic g.65548162G>A g.66083175G>A ASL(NM_001024943.1):c.446+1G>A, ASL(NM_001024943.2):c.446+1G>A - ASL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.446+1G>A r.spl? p.? Unknown - pathogenic g.65548162G>A g.66083175G>A ASL(NM_001024943.1):c.446+1G>A, ASL(NM_001024943.2):c.446+1G>A - ASL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.446+1G>A r.spl? p.? Unknown - pathogenic g.65548162G>A g.66083175G>A ASL(NM_001024943.1):c.446+1G>A, ASL(NM_001024943.2):c.446+1G>A - ASL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.446+1G>A r.spl? p.? Unknown - pathogenic g.65548162G>A g.66083175G>A ASL(NM_001024943.1):c.446+1G>A, ASL(NM_001024943.2):c.446+1G>A - ASL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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