Variant #0000679421 (NC_000012.11:g.123465250G>A, PITPNM2(NM_020845.2):c.*5324C>T)

Chromosome 12
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.123465250G>A
DNA change (hg38) -
Published as ARL6IP4(NM_001002252.2):c.499G>A (p.E167K)
ISCN -
DB-ID ARL6IP4_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_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARL6IP4 NM_018694.2 -?/. - c.316G>A r.(?) p.(Glu106Lys)
PITPNM2 NM_020845.2 -?/. - c.*5324C>T r.(=) p.(=)
OGFOD2 NM_024623.1 -?/. - c.*1357G>A r.(=) p.(=)