Genomic variant #0000438687

Individual ID 00207697
Chromosome 12
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.28116706T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID PTHLH_000013 See all 2 reported entries
Variant remarks -
Reference NOT DESCRIBED
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Arrate Pereda




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     
PTHLH NM_198965.1 +?/+? 4i c.102-3A>G - r.spl? p.? - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208738 DNA SEQ complete blood - PTHLH 1 Arrate Pereda