Genomic variant #0000369666

Individual ID 00165017
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.27958255G>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID SSH2_000001
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Jessada Thutkawkorapin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SSH2 NM_033389.2 +/. - c.3876C>G - r.(?) p.(Phe1292Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165886 DNA SEQ-ON - - - 1 Jessada Thutkawkorapin