Variant #0000062928 (NC_000002.11:g.207631461G>A, FASTKD2(NM_001136194.1):c.44G>A)

Individual ID 00035733
Chromosome 2
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.207631461G>A
DNA change (hg38) g.206766737G>A
Published as -
ISCN -
DB-ID FASTKD2_000004
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs3762568
Origin Germline
Segregation -
Frequency frequency 12-20%
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.13279 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.44G>A r.(?) p.(Ser15Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000035803 DNA SEQ - - FASTKD2 1 Andreas Laner