Unique variants in the GDNF gene

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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/., ?/. 3 3 c.277C>T r.(?) p.(Arg93Trp) - likely benign, VUS g.37816112G>A g.37816010G>A GDNF(NM_001190468.1):c.328C>T (p.R110W), R83W - GDNF_000001 3 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Amiel 2003, Journal: Amiel 2003, PubMed: Narang 2020, Journal: Narang 2020 - rs36119840 CLASSIFICATION record, Germline - 3/2795 individuals - - - Johan den Dunnen, VKGL-NL_Rotterdam, Mohammed Faruq
?/. 1 - c.633C>G r.(?) p.(Ile211Met) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.*1389A>G r.(=) p.(=) - likely benign g.37814364T>C g.37814262T>C - - GDNF_000003 3 homozygous; Clinindb (India), 65 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs78613670 Germline - 3/2795 individuals, 65/2795 individuals - - - Mohammed Faruq
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