Genomic variant #0000132644

Individual ID 00081807
Chromosome 12
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.28122384A>C
DNA change (hg38) g.27969451A>C
Published as -
ISCN -
DB-ID PTHLH_000006 See all 2 reported entries
Variant remarks -
Reference PubMed: Wang 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Guiomar Perez de Nanclares
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     
PTHLH NM_198965.1 +/+? 3 c.44T>G r.(?) p.(Leu15Arg) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081937 DNA SEQ - - PTHLH 3 Guiomar Perez de Nanclares