All transcript variants in gene SLC7A5P2

Information The variants shown are described using the NR_002594.1 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
./. - n.-7800480_1559del - - - pathogenic g.21530207_29332245del g.21518886_29320924del - - CLN3_000009 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
./. - n.-384308_*214965del r.0? p.0? - pathogenic g.21314249_21916073del g.21302928_21904752del - - CRYM-AS1_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
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