Variant #0000659134 (NC_000023.10:g.149937538G>A, MTMR1(NM_003828.2):c.*4562G>A)

Chromosome X
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.149937538G>A
DNA change (hg38) g.150769065G>A
Published as CD99L2(NM_001184808.1):c.539C>T (p.(Pro180Leu))
ISCN -
DB-ID CD99L2_000002 See all 2 reported entries
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) 0.00043 View details
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     
MTMR1 NM_003828.2 -?/. - c.*4562G>A r.(=) p.(=)
CD99L2 NM_031462.3 -?/. - c.758C>T r.(?) p.(Pro253Leu)