Genomic variant #0000132559

Individual ID 00081734
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.8555912A>C
DNA change (hg38) g.8587871A>C
Published as Y217D
ISCN -
DB-ID KAL1_000012
Variant remarks -
Reference PubMed: Hanchate 2012, Journal: Hanchate 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KAL1 NM_000216.2 +/. 5 c.649T>G - r.(?) p.(Tyr217Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081863 DNA SEQ - - KAL1, SEMA3A 2 Johan den Dunnen