Variant #0000506255 (NC_000001.10:g.237024404_237024413dup, MTR(NM_000254.2):c.2044-21_2044-12dup)

Chromosome 1
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.237024404_237024413dup
DNA change (hg38) g.236861104_236861113dup
Published as MTR(NM_000254.2):c.2044-20_2044-11dupTTTTTTTTTT
ISCN -
DB-ID MTR_000047
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_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MTR NM_000254.2 -?/. - c.2044-21_2044-12dup r.(=) p.(=)