Transcript #00009296 (NM_000410.3, HFE gene)

Transcript name transcript variant 1
Gene name HFE (hemochromatosis)
Chromosome 6
Transcript - NCBI ID NM_000410.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000401.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

87 entries on 1 page. Showing entries 1 - 87.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. _1 c.-408_-406del r.(=) p.(=)
?/. _1 c.-408_-406del r.(=) p.(=)
?/. - c.-7T>C r.(?) p.(=)
?/. - c.18G>C r.(?) p.(Arg6Ser)
?/. - c.18G>C r.(?) p.(Arg6Ser)
?/. - c.18G>C r.(?) p.(Arg6Ser)
-?/. - c.40C>G r.(?) p.(Leu14Val)
-?/. - c.50C>T r.(?) p.(Thr17Ile)
-?/. - c.50C>T r.(?) p.(Thr17Ile)
?/. - c.76+7C>G r.(=) p.(=)
-?/. - c.76+11G>A r.(=) p.(=)
?/. - c.77-22A>G r.(=) p.(=)
?/. - c.88C>A r.(?) p.(Leu30Met)
?/. - c.88C>A r.(?) p.(Leu30Met)
?/. 2 c.187C>G r.(?) p.(His63Asp)
?/. 2 c.187C>G r.(?) p.(His63Asp)
?/. 2 c.187C>G r.(?) p.(His63Asp)
?/. 2 c.187C>G r.(?) p.(His63Asp)
?/. 2 c.187C>G r.(?) p.(His63Asp)
+?/. 2 c.187C>G r.(?) p.(His63Asp)
+?/. 2 c.187C>G r.(?) p.(His63Asp)
+?/. 2 c.187C>G r.(?) p.(His63Asp)
+?/. 2 c.187C>G r.(?) p.(His63Asp)
+?/. 2 c.187C>G r.(?) p.(His63Asp)
+?/. 2 c.187C>G r.(?) p.(His63Asp)
?/? 2 c.187C>G r.(?) p.(His63Asp)
+?/. 2 c.187C>G r.(?) p.(His63Asp)
+?/. 2 c.187C>G r.(?) p.(His63Asp)
+?/. 2 c.187C>G r.(?) p.(His63Asp)
+?/. 2 c.187C>G r.(?) p.(His63Asp)
+?/. 2 c.187C>G r.(?) p.(His63Asp)
+?/. 2 c.187C>G r.(?) p.(His63Asp)
+/. - c.187C>G r.(?) p.(His63Asp)
+/. - c.187C>G r.(?) p.(His63Asp)
?/. 2 c.187C>G r.(?) p.(His63Asp)
-?/. - c.187C>G r.(?) p.(His63Asp)
+?/. 2 c.187C>G r.(?) p.(His63Asp)
+/. - c.187C>G r.(?) p.(His63Asp)
-?/. - c.193A>T r.(?) p.(Ser65Cys)
-?/. - c.193A>T r.(?) p.(Ser65Cys)
+?/. 2 c.193A>T r.(?) p.(Ser65Cys)
?/. - c.193A>T r.(?) p.(Ser65Cys)
+/. 2 c.211C>T r.(?) p.(Arg71*)
?/. - c.340+4T>A r.spl? p.?
-/. - c.340+4T>C r.spl? p.?
-/. - c.340+4T>C r.spl? p.?
+/. - c.498G>C r.(?) p.(Lys166Asn)
?/. - c.502G>C r.(?) p.(Glu168Gln)
?/. - c.548T>C r.(?) p.(Leu183Pro)
+?/. - c.548T>C r.(?) p.(Leu183Pro)
-?/. - c.616+6G>A r.(=) p.(=)
?/. - c.617-48C>G r.(=) p.(=)
?/. - c.617-48C>T r.(=) p.(=)
?/. - c.689A>G r.(?) p.(Tyr230Cys)
-?/. - c.696C>T r.(?) p.(Pro232=)
?/. - c.829G>A r.(?) p.(Glu277Lys)
-?/. - c.829G>A r.(?) p.(Glu277Lys)
-/. - c.829G>A r.(?) p.(Glu277Lys)
?/. - c.829G>A r.(?) p.(Glu277Lys)
?/. - c.829G>A r.(?) p.(Glu277Lys)
+/. 2 c.829G>A r.(?) p.(Glu277Lys)
?/. 4 c.845G>A r.(?) p.(Cys282Tyr)
?/. - c.845G>A r.(?) p.(Cys282Tyr)
+/. 4 c.845G>A r.(?) p.(Cys282Tyr)
+/. 4 c.845G>A r.(?) p.(Cys282Tyr)
+/. 4 c.845G>A r.(?) p.(Cys282Tyr)
+/. 4 c.845G>A r.(?) p.(Cys282Tyr)
+/. 4 c.845G>A r.(?) p.(Cys282Tyr)
+?/-? 4 c.845G>A r.(?) p.(Cys282Tyr)
+/. 4 c.845G>A r.(?) p.(Cys282Tyr)
+/. 4 c.845G>A r.(?) p.(Cys282Tyr)
+/. 4 c.845G>A r.(?) p.(Cys282Tyr)
+/? 4 c.845G>A r.(?) p.(Cys282Tyr)
+?/. 4 c.845G>A r.(?) p.(Cys282Tyr)
+/. 4 c.845G>A r.(?) p.(Cys282Tyr)
+/. 4 c.845G>A r.(?) p.(Cys282Tyr)
+/. 4 c.845G>A r.(?) p.(Cys282Tyr)
+/. 4 c.845G>A r.(?) p.(Cys282Tyr)
+/. - c.845G>A r.(?) p.(Cys282Tyr)
-?/. - c.884T>C r.(?) p.(Val295Ala)
-/. - c.892+48G>A r.(=) p.(=)
?/. - c.893-50G>A r.(=) p.(=)
-?/. - c.902C>T r.(?) p.(Pro301Leu)
?/. - c.943G>A r.(?) p.(Val315Ile)
-?/. - c.978C>T r.(?) p.(Phe326=)
-?/. - c.1006+1G>A r.spl? p.?
?/. - c.1016T>A r.(?) p.(Met339Lys)
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