All transcript variants in gene GM2A

Information The variants shown are described using the NM_000405.4 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

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     
+/. - c.164C>T r.(?) p.(Pro55Leu) - pathogenic (recessive) g.150639398C>T g.151259837C>T - - GM2A_000004 - PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - 0 - Johan den Dunnen
-/. - c.175A>G r.(?) p.(Ile59Val) - benign g.150639409A>G g.151259848A>G GM2A(NM_000405.4):c.175A>G (p.I59V) - GM2A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.205A>G r.(?) p.(Met69Val) - benign g.150639439A>G g.151259878A>G GM2A(NM_000405.4):c.205A>G (p.M69V) - GM2A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.582A>G r.(?) p.(Ter194=) - benign g.150647012A>G g.151267451A>G GM2A(NM_000405.4):c.582A>G (p.*194=) - GM2A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
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