Full data view for gene GDNF

Information The variants shown are described using the NM_000514.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 3 c.277C>T r.(?) p.(Arg93Trp) Parent #1 - VUS g.37816112G>A g.37816010G>A R83W - GDNF_000001 - PubMed: Amiel 2003, Journal: Amiel 2003 - - Germline - - - 0 - DNA PCR - - CCHS - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - 0 - - 1 Johan den Dunnen
-?/. - c.277C>T r.(?) p.(Arg93Trp) Unknown - likely benign g.37816112G>A g.37816010G>A GDNF(NM_001190468.1):c.328C>T (p.R110W) - GDNF_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277C>T r.(?) p.(Arg93Trp) Parent #1 - likely benign g.37816112G>A g.37816010G>A - - GDNF_000001 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs36119840 Germline - 3/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
?/. - c.633C>G r.(?) p.(Ile211Met) Unknown - VUS g.37815756G>C g.37815654G>C GDNF(NM_001190468.1):c.684C>G (p.I228M) - GDNF_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1389A>G r.(=) p.(=) Parent #1 - likely benign g.37814364T>C g.37814262T>C - - GDNF_000003 65 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs78613670 Germline - 65/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 65 Mohammed Faruq
-?/. - c.*1389A>G r.(=) p.(=) Both (homozygous) - likely benign g.37814364T>C g.37814262T>C - - GDNF_000003 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs78613670 Germline - 3/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
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