All transcript variants in gene PIGH

Information The variants shown are described using the NM_004569.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.1A>T - r.? p.? g.68066920T>A - - - PIGH_000003 - PubMed: Pagnamenta et al. 2018 - rs761543313 Germline yes - - 0 - Philippe Campeau
+?/. - c.1A>T - r.? p.? g.68066920T>A - - - PIGH_000003 - PubMed: Pagnamenta et al. 2018 - rs761543313 Germline yes - - 0 - Philippe Campeau
-?/. - c.180+6G>A likely benign r.(=) p.(=) g.68066735C>T - PIGH(NM_004569.3):c.180+6G>A (p.(=)) - PIGH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. - c.307T>C - r.(?) p.(Ser103Pro) g.68060543A>G - - - PIGH_000002 - - - - Germline yes - - 0 - Philippe Campeau
./. - c.*2898G>A - r.(=) p.(=) g.68053899C>T g.67587182C>T - - PIGH_000001 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
-/. - c.*2898G>A benign r.(=) p.(=) g.68053899C>T - PLEKHH1(NM_020715.2):c.4042C>T (p.(Arg1348Ter)) - PIGH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*2898G>A likely benign r.(=) p.(=) g.68053899C>T - PLEKHH1(NM_020715.2):c.4042C>T (p.(Arg1348Ter)) - PIGH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*6306G>A VUS r.(=) p.(=) g.68050491C>T - PLEKHH1(NM_020715.2):c.3460C>T (p.(Pro1154Ser)) - PLEKHH1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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