Genomic variant #0000574095

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.14937884C>G
DNA change (hg38) -
Published as MOSPD2(NM_001177475.1):c.1321C>G (p.(Leu441Val), p.(Leu504Val))
ISCN -
DB-ID MOSPD2_000014
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MOSPD2 NM_152581.3 -?/. - c.1510C>G likely benign r.(?) p.(Leu504Val)