Transcript #00025355 (NM_006158.4, NEFL gene)

Transcript name neurofilament, light polypeptide
Gene name NEFL (neurofilament, light polypeptide)
Chromosome 8
Transcript - NCBI ID NM_006158.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_006149.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

85 entries on 1 page. Showing entries 1 - 85.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-42del r.(?) p.(=)
+/. 1 c.19G>A r.(?) p.(Glu7Lys)
+/. - c.19G>A r.(?) p.(Glu7Lys)
+/. - c.22C>A r.(?) p.(Pro8Thr)
+/. 1 c.23C>A r.(?) p.(Pro8Gln)
+/. - c.23C>A r.(?) p.(Pro8Gln)
+/. 1 c.23C>G r.(?) p.(Pro8Arg)
+/. - c.23C>G r.(?) p.(Pro8Arg)
+/. 1 c.23C>T r.(?) p.(Pro8Leu)
+/. - c.23C>T r.(?) p.(Pro8Leu)
-?/. - c.23G>C - -
-?/. - c.45G>A r.(?) p.(Lys15=)
+/. - c.59_60insCTCCACGTAGCGC r.(?) p.(Glu20AspfsTer4)
+/. 1 c.64C>A r.(?) p.(Pro22Thr)
+/. - c.64C>A r.(?) p.(Pro22Thr)
+/. 1 c.64C>T r.(?) p.(Pro22Ser)
+/. - c.64C>T r.(?) p.(Pro22Ser)
+/. - c.65C>G r.(?) p.(Pro22Arg)
+/. - c.65C>G r.(?) p.(Pro22Arg)
+/. 1 c.65C>G r.(?) p.(Pro22Arg)
-/. - c.123C>T r.(?) p.(Ser41=)
-/. - c.192G>A r.(?) p.(Leu64=)
-/. - c.227T>C r.(?) p.(Val76Ala)
-?/. - c.227T>C r.(?) p.(Val76Ala)
?/. - c.262A>C r.(?) p.(Thr88Pro)
?/. - c.262A>C r.(?) p.(Thr88Pro)
+?/. - c.262A>C r.(?) p.(Thr88Pro)
+/. - c.262A>C r.(?) p.(Thr88Pro)
+/. 1 c.268G>A r.(?) p.(Glu90Lys)
+/. - c.268G>A r.(?) p.(Glu90Lys)
-/. - c.279G>A r.(?) p.(Gln93=)
?/. - c.281T>A r.(?) p.(Leu94His)
+/. 1 c.281T>C r.(?) p.(Leu94Pro)
+?/. - c.281T>C r.(?) p.(Leu94Pro)
+/. 1 c.293A>G r.(?) p.(Asn98Ser)
+/. - c.293A>G r.(?) p.(Asn98Ser)
+?/. - c.293T>C - -
+?/. - c.293T>G - -
?/. - c.296A>C r.(?) p.(Asp99Ala)
?/. - c.400C>T r.(?) p.(Arg134Cys)
+/. 1 c.418G>T r.(?) p.(Glu140*)
-/. - c.423G>A r.(?) p.(Gln141=)
+/. 1 c.446C>T r.(?) p.(Ala149Val)
+/. - c.446C>T r.(?) p.(Ala149Val)
?/. - c.532T>A r.(?) p.(Tyr178Asn)
+/. 1 c.542dup r.(?) p.(Val182Glyfs*96)
-/. - c.582A>C r.(?) p.(Glu194Asp)
+/. 1 c.628G>T r.(?) p.(Glu210*)
-?/. - c.639C>G r.(?) p.(Ile213Met)
-/. - c.639C>G r.(?) p.(Ile213Met)
-/. - c.667C>T r.(?) p.(Leu223=)
-?/. - c.667C>T r.(?) p.(Leu223=)
-/. - c.720C>T r.(?) p.(Tyr240=)
?/. - c.793_798del r.(?) p.(Tyr265_Glu266del)
+/. 1 c.803T>C r.(?) p.(Leu268Pro)
?/. - c.943_948dup r.(?) p.(Lys315_Thr316dup)
+/. - c.995A>C r.(?) p.(Gln332Pro)
+/. 1 c.995A>C r.(?) p.(Gln332Pro)
+/. - c.995A>C r.(?) p.(Gln332Pro)
+/. 1 c.998T>C r.(?) p.(Leu333Pro)
+/. - c.998T>C r.(?) p.(Leu333Pro)
-?/. - c.1044+8_1044+92del r.(=) p.(=)
-?/. - c.1044+15G>C r.(=) p.(=)
-/. - c.1080C>T r.(?) p.(Thr360=)
?/. - c.1114T>G r.(?) p.(Tyr372Asp)
+?/. 2 c.1150A>T r.(?) p.(Ile384Phe)
-/. - c.1169+14G>A r.(=) p.(=)
-/. - c.1170-13T>C r.(=) p.(=)
+?/. - c.1178A>C - -
+/. 3 c.1186G>A r.(?) p.(Glu396Lys)
+/. 3 c.1186G>A r.(?) p.(Glu396Lys)
+/. - c.1186G>A r.(?) p.(Glu396Lys)
+/. - c.1186G>A r.(?) p.(Glu396Lys)
-/. - c.1212C>T r.(?) p.(Ser404=)
+?/. - c.1315A>T - -
+/. 3 c.1319C>T r.(?) p.(Pro440Leu)
-/. - c.1402G>A r.(?) p.(Asp468Asn)
-/. - c.1406_1408= r.(=) p.(Glu469=)
-/. - c.1406_1408= r.(=) p.(Glu469=)
-/. - c.1457C>T r.(?) p.(Ala486Val)
-/. - c.1529_1531del r.(?) p.(Glu510del)
-?/. - c.1571_1572insG r.(?) p.(Glu525ArgfsTer7)
-/. - c.1579_1581del r.(?) p.(Glu527del)
-?/. - c.1610A>G r.(?) p.(Gln537Arg)
-?/. - c.*1100C>T r.(=) p.(=)
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