Unique variants in the SLC6A20 gene

Information The variants shown are described using the NM_020208.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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     
-/. 1 - c.26C>G r.(?) p.(Ala9Gly) - benign g.45837886G>C g.45796394G>C SLC6A20(NM_020208.3):c.26C>G (p.A9G) - SLC6A20_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.417T>C r.(?) p.(Cys139=) - benign g.45817418A>G g.45775926A>G SLC6A20(NM_020208.3):c.417T>C (p.C139=) - SLC6A20_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 3 - c.596C>T r.(?) p.(Thr199Met) - likely benign g.45814094G>A g.45772602G>A SLC6A20(NM_020208.3):c.596C>T (p.T199M) - SLC6A20_000003 189 heterozygous; Clinindb (India), 5 homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs17279437 CLASSIFICATION record, Germline - 189/2795 individuals, 5/2795 individuals - - - VKGL-NL_Utrecht, Mohammed Faruq
-/. 1 - c.1585A>G r.(?) p.(Ile529Val) - benign g.45801393T>C g.45759901T>C SLC6A20(NM_020208.3):c.1585A>G (p.I529V) - SLC6A20_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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