Transcript #00000134 (NM_020742.2, NLGN4X gene)

Transcript name neuroligin 4, X-linked, transcript variant 2
Gene name NLGN4X (neuroligin 4, X-linked)
Chromosome X
Transcript - NCBI ID NM_020742.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_851849.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

86 entries on 1 page. Showing entries 1 - 86.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-799G>A - p.(=)
?/. - c.-799G>A - p.(=)
?/. - c.-585_-584del - p.(=)
?/. - c.-585_-584del - p.(=)
?/. - c.-576_-575del - p.(=)
?/. - c.-576_-575del - p.(=)
?/. - c.? r.0? p.0?
-?/. - c.54C>T r.(?) p.(Cys18=)
-?/. - c.55G>A r.(?) p.(Val19Ile)
-?/. - c.71A>G r.(?) p.(Asn24Ser)
?/. - c.115A>G r.(?) p.(Ile39Val)
-?/. - c.191A>G r.(?) p.(Asn64Ser)
?/. - c.260G>A r.(?) p.(Arg87Gln)
+?/. - c.301C>T r.(?) p.(Arg101Ter)
+/. - c.301C>T r.(?) p.(Arg101Ter)
-?/. - c.392A>G r.(?) p.(Asn131Ser)
-?/. - c.392A>G r.(?) p.(Asn131Ser)
-?/. - c.392A>G r.(?) p.(Asn131Ser)
-?/. - c.392A>G r.(?) p.(Asn131Ser)
-?/. - c.411C>T r.(?) p.(Thr137=)
+?/. - c.456C>G r.(?) p.(Tyr152*)
?/. - c.473-252_473-251dup r.(=) p.(=)
-?/. - c.473-5dup r.spl? p.?
?/. - c.473-5dup r.spl? p.?
-?/. - c.591C>T r.(?) p.(Ile197=)
?/. - c.608A>G r.(?) p.(Tyr203Cys)
?/. - c.625+27060C>T r.(=) p.(=)
?/. - c.625+27060C>T r.(=) p.(=)
?/. - c.625+27171G>A r.(=) p.(=)
?/. - c.625+27171G>A r.(=) p.(=)
-?/. - c.811+9G>T r.(=) p.(=)
?/. - c.847G>A r.(?) p.(Ala283Thr)
?/. - c.847G>A r.(?) p.(Ala283Thr)
?/. - c.847G>A r.(?) p.(Ala283Thr)
-/. - c.897A>G r.(?) p.(Ile299Met)
-?/. 5 c.933C>T r.(?) p.(=)
-/. - c.933C>T r.(?) p.(Thr311=)
-?/. - c.936G>A r.(?) p.(Thr312=)
-?/. - c.955C>A r.(?) p.(Arg319=)
?/. - c.1012A>G r.(?) p.(Ile338Val)
?/. - c.1042G>A r.(?) p.(Val348Ile)
-?/. - c.1042G>A r.(?) p.(Val348Ile)
?/. - c.1144G>A r.(?) p.(Gly382Ser)
?/. - c.1144G>A r.(?) p.(Gly382Ser)
?/. - c.1168G>A r.(?) p.(Val390Met)
?/. - c.1168G>A r.(?) p.(Val390Met)
?/. - c.1195G>A r.(?) p.(Val399Met)
-?/. - c.1197G>C r.(?) p.(Val399=)
-?/. - c.1299G>A r.(?) p.(Pro433=)
?/. - c.1330T>C r.(?) p.(Phe444Leu)
-?/. - c.1359C>T r.(?) p.(Ala453=)
-?/. - c.1368C>T r.(?) p.(Thr456=)
?/. - c.1487T>A r.(?) p.(Val496Asp)
-?/. - c.1563C>T r.(?) p.(Ala521=)
?/. - c.1601+157C>A r.(=) p.(=)
?/. - c.1601+157C>A r.(=) p.(=)
-?/. - c.1704C>G r.(?) p.(Leu568=)
-/. - c.1777C>T r.(?) p.(Leu593Phe)
?/. 6 c.1777C>T r.(?) p.(Leu593Phe)
-/. - c.1777C>T r.(?) p.(Leu593Phe)
-?/. - c.1777C>T r.(?) p.(Leu593Phe)
-?/. 6 c.1779C>G r.(?) p.(=)
-?/. - c.1977G>C r.(?) p.(Glu659Asp)
?/. - c.2015C>A r.(?) p.(Ser672Tyr)
-?/. - c.2019C>T r.(?) p.(Thr673=)
?/. - c.2033C>T r.(?) p.(Thr678Ile)
?/. - c.2035A>G r.(?) p.(Ile679Val)
?/. - c.2041G>A r.(?) p.(Val681Ile)
?/. 6 c.2164G>A r.(?) p.(Ala722Thr)
-?/. - c.2246A>G r.(?) p.(His749Arg)
?/. - c.2246A>T r.(?) p.(His749Leu)
-?/. 6 c.2253A>G r.(?) p.(=)
-?/. - c.2280C>T r.(?) p.(Tyr760=)
?/. 6 c.2317C>T r.(?) p.(Leu773Phe)
?/. - c.2354C>A r.(?) p.(Thr785Lys)
-?/. 6 c.2356C>T r.(?) p.(=)
?/. 6 c.2360C>T r.(?) p.(Thr787Met)
?/. 6 c.2388C>A r.(?) p.(Asn796Lys)
?/. - c.2410A>T r.(?) p.(Ser804Cys)
?/. - c.*284G>A r.(=) p.(=)
?/. - c.*284G>A r.(=) p.(=)
?/. - c.*284G>A r.(=) p.(=)
?/. - c.*768T>C r.(=) p.(=)
?/. - c.*768T>C r.(=) p.(=)
?/. - c.*1997C>T r.(=) p.(=)
?/. - c.*1997C>T r.(=) p.(=)
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