Transcript #00001675 (NM_023073.3, C5orf42 gene)

Transcript name chromosome 5 open reading frame 42
Gene name C5orf42 (chromosome 5 open reading frame 42)
Chromosome 5
Transcript - NCBI ID NM_023073.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_075561.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

476 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. - c.? r.? p.?
-/. - c.81+20C>T r.(=) p.(=)
-/. - c.81+20C>T r.(=) p.(=)
-?/. - c.118A>G r.(?) p.(Ile40Val)
-?/. - c.336C>T r.(?) p.(Val112=)
-/. - c.338-86T>A r.(=) p.(=)
+/. - c.424G>A r.(?) p.(Glu142Lys)
+/. - c.424G>A r.(?) p.(Glu142Lys)
+/. 5 c.455C>T r.(?) p.(Ser152Phe)
+?/. - c.455C>T r.(?) p.(Ser152Phe)
?/. - c.474G>A r.(?) p.(Ala158=)
?/. - c.474G>A r.(?) p.(Ala158=)
?/. - c.478C>T r.(?) p.(Arg160Trp)
?/. - c.481T>G r.(?) p.(Trp161Gly)
+/. - c.493del r.(?) p.(Ile165Tyrfs*17)
+/. - c.493del r.(?) p.(Ile165Tyrfs*17)
+?/. 5 c.493del r.(?) p.(Ile165Tyrfs*17)
+/. 5 c.493del r.(?) p.(Ile165Tyrfs*17)
+/. - c.493del r.(?) p.(Ile165Tyrfs*17)
+/. - c.509del r.(?) p.(Leu171Serfs*11)
+/. - c.509dup r.(?) p.(Leu171Serfs*8)
+/. 5 c.510dup r.(?) p.(Leu171Serfs*8)
+?/. 5 c.510dup r.(?) p.(Leu171Serfs*8)
-?/. - c.525C>T r.(?) p.(Thr175=)
?/. - c.608A>G r.(?) p.(Tyr203Cys)
-?/. - c.626A>G r.(?) p.(Lys209Arg)
?/. - c.626A>G r.(?) p.(Lys209Arg)
-?/. - c.626A>G r.(?) p.(Lys209Arg)
-?/. - c.662T>C r.(?) p.(Val221Ala)
-?/. - c.662T>C r.(?) p.(Val221Ala)
-/. - c.663A>G r.(?) p.(Val221=)
-?/. - c.692A>G r.(?) p.(His231Arg)
-?/. - c.692A>G r.(?) p.(His231Arg)
+/. - c.817A>C r.(?) p.(Asn273His)
-/. - c.834+15G>A r.(=) p.(=)
?/. - c.916G>A r.(?) p.(Val306Met)
+?/. 9 c.964T>G r.(?) p.(Trp322Gly)
+/. - c.968C>T r.(?) p.(Thr323Met)
?/. - c.968C>T r.(?) p.(Thr323Met)
?/. - c.968C>T r.(?) p.(Thr323Met)
+?/. 9 c.986T>C r.(?) p.(Leu329Pro)
?/. - c.1096C>T r.(?) p.(Pro366Ser)
-?/. - c.1116G>T r.(?) p.(Thr372=)
?/. - c.1123C>T r.(?) p.(Pro375Ser)
-/. - c.1136C>T r.(?) p.(Thr379Met)
-?/. - c.1173T>G r.(?) p.(Ala391=)
-/. - c.1173T>G r.(?) p.(Ala391=)
?/. - c.1181G>T r.(?) p.(Ser394Ile)
?/. - c.1222C>T r.(?) p.(Arg408Trp)
+/. - c.1230del r.(?) p.(Tyr411Thrfs*25)
?/. - c.1271G>A r.(?) p.(Arg424Gln)
?/. - c.1282A>G r.(?) p.(Ser428Gly)
?/. - c.1312C>T r.(?) p.(Leu438Phe)
?/. - c.1319T>C r.(?) p.(Leu440Pro)
-?/. - c.1456G>A r.(?) p.(Asp486Asn)
-?/. - c.1456G>A r.(?) p.(Asp486Asn)
?/. - c.1597G>C r.(?) p.(Asp533His)
-?/. - c.1697T>C r.(?) p.(Ile566Thr)
-/. - c.1736C>T r.(?) p.(Ala579Val)
-/. - c.1736C>T r.(?) p.(Ala579Val)
-?/. - c.1736C>T r.(?) p.(Ala579Val)
-?/. - c.1755A>G r.(?) p.(Ser585=)
-?/. - c.1755A>G r.(?) p.(Ser585=)
+/. - c.1784T>G r.(?) p.(Leu595*)
+/. - c.1784T>G r.(?) p.(Leu595*)
+/. - c.1784T>G r.(?) p.(Leu595*)
+/. - c.1784T>G r.(?) p.(Leu595*)
+?/. - c.1784T>G r.(?) p.(Leu595*)
./. - c.1784T>G r.(?) p.(Leu595*)
+/. - c.1784T>G r.(?) p.(Leu595Ter)
+/. 12 c.1784T>G r.(?) p.(Leu595*)
+/. 12 c.1784T>G r.(?) p.(Leu595*)
./. - c.1784T>G r.(?) p.(Leu595*)
+?/. - c.1784T>G r.(?) p.(Leu595*)
+?/. - c.1784T>G r.(?) p.(Leu595*)
?/. - c.1811A>T r.(?) p.(His604Leu)
+/. - c.1812del r.(?) p.(Tyr607Thrfs*6)
+?/. - c.1819del r.(?) p.(Tyr607Thrfs*6)
+/. - c.1819del r.(?) p.(Tyr607ThrfsTer6)
+/. - c.1819del r.(?) p.(Tyr607ThrfsTer6)
+/. 12 c.1819del r.(?) p.(Tyr607Thrfs*6)
+/. 12 c.1819del r.(?) p.(Tyr607Thrfs*6)
+?/. - c.1819del r.(?) p.(Tyr607Thrfs*6)
?/. - c.1839A>C r.(?) p.(Lys613Asn)
-?/. - c.1883G>A r.(?) p.(Arg628Lys)
-?/. - c.1902T>G r.(?) p.(Leu634=)
-/. - c.1902T>G r.(?) p.(Leu634=)
+/. - c.2033del r.(?) p.(Gly678ValfsTer9)
-?/. - c.2078A>G r.(?) p.(Lys693Arg)
?/. - c.2185A>G r.(?) p.(Ile729Val)
+/. - c.2275C>T r.(?) p.(Gln759*)
+/. - c.2275C>T r.(?) p.(Gln759*)
./. - c.2278C>T r.(?) p.(Gln760*)
-/. - c.2292-74del r.(=) p.(=)
+?/. - c.2334G>A r.(?) p.(Trp778*)
+/. 13 c.2334G>A r.(?) p.(Trp778*)
+/. - c.2353C>T r.(?) p.(Arg785*)
+/. - c.2377C>T r.(?) p.(Gln793*)
+/. - c.2377C>T r.(?) p.(Gln793*)
-?/. - c.2427A>G r.(?) p.(Leu809=)
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