Variant #0000062927 (NC_000002.11:g.207652905T>G, FASTKD2(NM_001136194.1):c.1813+26T>G)

Individual ID 00035732
Chromosome 2
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.207652905T>G
DNA change (hg38) g.206788181T>G
Published as -
ISCN -
DB-ID FASTKD2_000003
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00108 View details
Owner Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FASTKD2 NM_001136194.1 ?/. - c.1813+26T>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000035802 DNA SEQ - - FASTKD2 1 Andreas Laner