Variant #0000808049 (NC_000017.10:g.43552773G>A, PLEKHM1(NM_014798.2):c.616C>T)

Chromosome 17
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.43552773G>A
DNA change (hg38) -
Published as PLEKHM1(NM_014798.2):c.616C>T (p.(Pro206Ser))
ISCN -
DB-ID MIR4315-1_000001
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLEKHM1 NM_014798.2 -?/. - c.616C>T r.(?) p.(Pro206Ser)
MIR4315-1 NR_036199.1 -?/. - n.29C>T r.(?) -