Variant #0000688604 (NC_000002.11:g.207631609T>C, FASTKD2(NM_001136194.1):c.192T>C)

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.207631609T>C
DNA change (hg38) -
Published as FASTKD2(NM_001136194.1):c.192T>C (p.F64=)
ISCN -
DB-ID FASTKD2_000010
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) 0.00023 View details
Owner VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MDH1B NM_001039845.1 -?/. - c.-1614A>G r.(?) p.(=)
FASTKD2 NM_001136194.1 -?/. - c.192T>C r.(?) p.(Phe64=)
FASTKD2 NM_014929.3 -?/. - c.192T>C r.(?) p.(Phe64=)