Variant #0000682177 (NC_000023.10:g.149931164C>T, MTMR1(NM_003828.2):c.1960C>T)

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.149931164C>T
DNA change (hg38) -
Published as MTMR1(NM_001353990.1):c.2011C>T (p.P671S)
ISCN -
DB-ID MTMR1_000031
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
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MTMR1 NM_003828.2 -?/. - c.1960C>T r.(?) p.(Pro654Ser)
CD99L2 NM_031462.3 -?/. - c.*6343G>A r.(=) p.(=)