Variant #0000514007 (NC_000002.11:g.207636983A>T, FASTKD2(NM_001136194.1):c.1193A>T)

Chromosome 2
Allele Unknown
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.207636983A>T
DNA change (hg38) g.206772259A>T
Published as FASTKD2(NM_001136194.1):c.1193A>T (p.D398V)
ISCN -
DB-ID FASTKD2_000009
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FASTKD2 NM_001136194.1 ?/. - c.1193A>T r.(?) p.(Asp398Val)
FASTKD2 NM_014929.3 ?/. - c.1193A>T r.(?) p.(Asp398Val)