Genomic variant #0000128929

Individual ID 00079975
Chromosome 12
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.28116639G>A
DNA change (hg38) g.27963706G>A
Published as -
ISCN -
DB-ID PTHLH_000009 See all 2 reported entries
Variant remarks -
Reference PubMed: Jamsheer et al. 2016
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
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 +?/. 4 c.166C>T - r.(?) p.(Arg56*) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080053 DNA SEQ peripheral blood - PTHLH 1 Arrate Pereda