Transcript #00000096 (NM_000264.4, PTCH1 gene)

Transcript name transcript variant 1b
Gene name PTCH1 (patched 1)
Chromosome 9
Transcript - NCBI ID NM_000264.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000255.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

7 entries on 1 page. Showing entries 1 - 7.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
-/- 10i c.1504-8T>C p.(=) Hetero no r.(=) -
-/- 15i c.2560+9G>C p.(=) Hetero no r.(=) -
?/? 16 c.2689A>G p.(Ile897Val) Hetero ATM r.(=) -
-/- 22 c.3583A>T p.(Thr1195Ser) Hetero no . -
?/? 18 c.2944C>G (p.Arg982Gly) Hetero no r.(2944c>g) -
?/? 20 c.3423G>A p.(=) Hetero SDHB r.(3423g>a) -
?/? 23 c.4188del (p.Leu1397Serfs*55) Hetero no r.(4188del) -
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