Variant #0000626538 (NC_000005.9:g.10356459_10356523ATTTT[11], NC_000005.9(NM_005885.3):c.19+2430_19+2494ATTTT[11] (MARCH6))

Individual ID 00271454
Chromosome 5
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.10356459_10356523ATTTT[11]
DNA change (hg38) g.10356347_10356411ATTTT[11]
Published as -
ISCN -
DB-ID MARCH6_000007
Variant remarks -
Reference PubMed: Florion 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency 15/164 chromosomes
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-12-19 15:38:10 +01:00 (CET)
Date last edited 2019-12-19 16:05:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
MARCH6 NM_005885.3 -/. 1i c.19+2430_19+2494ATTTT[11] ATTTT[11] r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000272607 DNA SEQ - - MARCH6 1 Johan den Dunnen


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