Transcript #00000045 (NM_000136.2, FANCC gene)

Transcript name Fanconi anemia complementation group C, transcript variant 1
Gene name FANCC (FA complementation group C)
Chromosome 9
Transcript - NCBI ID NM_000136.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000127.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

9 entries on 1 page. Showing entries 1 - 9.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
?/? 2 c.77C>T p.(Ser26Phe) Hetero no r.(77c>u) -
?/-? 2 c.77C>T p.(Ser26Phe) Hetero no r.(77c>u) -
?/? 2 c.77C>T p.(Ser26Phe) Hetero no r.(77c>u) -
?/? 7 c.584A>T p.(Asp195Val) Hetero no r.(584a>u) -
?/? 7 c.584A>T p.(Asp195Val) Hetero no r.(584a>u) -
?/? 7 c.632C>G p.(Pro211Arg) Hetero no r.(?) -
+/+ 11 c.1069C>T p.(Gln357*) Hetero N/A r.(?) -
?/? 13 c.1429G>A p.(Glu17Lys) Hetero no r.? -
?/? 15 c.1607T>C p.(Leu536Pro) Hetero no r.(?) -
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