Transcript #00000081 (NM_000314.6, PTEN gene)

Transcript name transcript variant 1
Gene name PTEN (phosphatase and tensin homolog)
Chromosome 10
Transcript - NCBI ID NM_000314.6
Transcript - Ensembl ID -
Protein - NCBI ID NP_000305.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

17 entries on 1 page. Showing entries 1 - 17.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     
?/? 8 c.-6C>A . Hetero no .
?/? 8 c.-6C>A . Hetero no .
?/? 5'UTR c.-869G>C . Hetero no .
?/? 9 c.1187A>G p.(Gln396Arg) Hetero no .
+/+ 1 c.49C>T p.(Gln17*) Hetero N/A .
+/+ 6 c.635-2A>C . Hetero N/A .
+/+ 7 c.702_703delinsC p.(Glu235Lysfs*21) Hetero N/A .
-/-? 7i c.802-3del . Hetero no .
-?/-? 7i c.802-3del . Hetero BRCA1 .
-?/-? 7i c.802-3del . Hetero BRCA1 .
-/- 7i c.802-3del . Hetero no .
-?/-? 7i c.802-3del . Hetero no .
-?/-? 7i c.802-3del . Hetero no .
-?/-? 7i c.802-3del . Hetero no .
-/- 7i c.802-3dup . Hetero MLH1 .
-/- 7i c.802-3dup . Hetero MLH1 .
+/+ 8 c.823del p.(Val275*) Hetero N/A .
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