Variant #0000812017 (NC_000002.11:g.111408390_113315808del, NM_006343.2:c.0 (MERTK))

Individual ID 00383913
Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.111408390_113315808del
DNA change (hg38) g.110650813_112558231del
Published as arr[hg19] 2q13(111408390-113315808) del
ISCN -
DB-ID MERTK_000175
Variant remarks compound heterozygous
Reference PubMed: Martin Merida 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-09-29 13:11:15 +02:00 (CEST)
Date last edited 2023-01-31 09:56:29 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MERTK NM_006343.2 +?/. - c.0 r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000385138 DNA SEQ-NG-I;arrayCGH - - MERTK 2 LOVD


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