Variant #0000718395 (NC_000002.11:g.207652721C>A, FASTKD2(NM_001136194.1):c.1655C>A)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.207652721C>A
DNA change (hg38) -
Published as FASTKD2(NM_001136194.1):c.1655C>A (p.T552N)
ISCN -
DB-ID FASTKD2_000012
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FASTKD2 NM_001136194.1 -?/. - c.1655C>A r.(?) p.(Thr552Asn)
FASTKD2 NM_014929.3 -?/. - c.1655C>A r.(?) p.(Thr552Asn)