Transcript #00025302

Transcript name transcript variant 1
Gene name AFF2 (AF4/FMR2 family, member 2)
Chromosome X
Transcript - NCBI ID NM_002025.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002016.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

95 entries on 1 page. Showing entries 1 - 95.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
./. - c.48-255_48-254insA - r.(=) p.(=)
?/. - c.178T>C VUS r.(?) p.(Tyr60His)
-?/. - c.178T>C likely benign r.(?) p.(Tyr60His)
?/. - c.179A>G VUS r.(?) p.(Tyr60Cys)
?/. - c.257C>T VUS r.(?) p.(Thr86Ile)
-?/. - c.493A>G likely benign r.(?) p.(Asn165Asp)
-?/. - c.493A>G likely benign r.(?) p.(Asn165Asp)
-?/. - c.496C>T likely benign r.(?) p.(Pro166Ser)
?/. - c.496C>T VUS r.(?) p.(Pro166Ser)
-?/. - c.566C>G likely benign r.(?) p.(Ser189Cys)
-?/. - c.1034C>A likely benign r.(?) p.(Thr345Lys)
-?/. - c.1041+56448G>A likely benign r.(=) p.(=)
-/. - c.1041+56459A>G benign r.(=) p.(=)
./. - c.1086+114T>C - r.(=) p.(=)
./. - c.1086+114T>C - r.(=) p.(=)
./. - c.1087-108_1087-104del - r.(=) p.(=)
./. - c.1087-108_1087-104del - r.(=) p.(=)
./. - c.1087-97_1087-93del - r.(=) p.(=)
./. - c.1087-97_1087-93del - r.(=) p.(=)
-/. - c.1121C>A benign r.(?) p.(Ser374Tyr)
-?/. - c.1121C>A likely benign r.(?) p.(Ser374Tyr)
-?/. - c.1162A>G likely benign r.(?) p.(Ile388Val)
-?/. - c.1165C>A likely benign r.(?) p.(Pro389Thr)
./. - c.1173+278A>G - r.(=) p.(=)
./. - c.1173+278A>G - r.(=) p.(=)
./. - c.1262+396G>C - r.(=) p.(=)
./. - c.1263-372C>A - r.(=) p.(=)
./. - c.1359+202G>A - r.(=) p.(=)
./. - c.1359+202G>A - r.(=) p.(=)
+?/. - c.1444G>A likely pathogenic r.(?) p.(Gly482Arg)
?/. - c.1444G>A VUS r.(?) p.(Gly482Arg)
-?/. - c.1467A>T likely benign r.(?) p.(Glu489Asp)
-?/. - c.1488G>A - r.(=) p.(=)
./. - c.1558-190A>G - r.(=) p.(=)
./. - c.1558-190A>G - r.(=) p.(=)
./. - c.1558-78G>C - r.(=) p.(=)
./. - c.1558-78G>C - r.(=) p.(=)
-?/. - c.1558C>T likely benign r.(?) p.(Pro520Ser)
?/. - c.1786G>A VUS r.(?) p.(Ala596Thr)
-/. - c.1788C>A benign r.(?) p.(=)
-?/. - c.1795C>T likely benign r.(?) p.(Arg599Trp)
?/. - c.1834C>G - r.(?) p.(His612Asp)
-?/. - c.2065C>T likely benign r.(?) p.(Pro689Ser)
-?/. - c.2065C>T likely benign r.(?) p.(Pro689Ser)
?/. - c.2108T>C VUS r.(?) p.(Ile703Thr)
-?/. - c.2109T>G likely benign r.(?) p.(Ile703Met)
?/. - c.2204C>T VUS r.(?) p.(Pro735Leu)
-?/. - c.2247C>G likely benign r.(?) p.(Ile749Met)
?/. - c.2351T>G VUS r.(?) p.(Met784Arg)
-?/. - c.2467C>G likely benign r.(?) p.(Pro823Ala)
./. - c.2509C>T - r.(2509c>u) p.(Arg837Cys)
-?/. - c.2558G>A likely benign r.(?) p.(Arg853His)
./. - c.2568+178A>G - r.(=) p.(=)
./. - c.2568+178A>G - r.(=) p.(=)
-?/. - c.2572A>G likely benign r.(?) p.(Ile858Val)
-/. - c.2656C>G benign r.(?) p.(Pro886Ala)
-?/. - c.2656C>G likely benign r.(?) p.(Pro886Ala)
-?/. - c.2656C>G likely benign r.(?) p.(Pro886Ala)
?/. - c.2656C>G - r.(?) p.(Pro886Ala)
-?/. - c.2776C>T likely benign r.(?) p.(Arg926Cys)
-/. - c.2780G>A benign r.(?) p.(Arg927His)
-?/. - c.2780G>A likely benign r.(?) p.(Arg927His)
?/. - c.2780G>A VUS r.(?) p.(Arg927His)
?/. - c.2906C>T VUS r.(?) p.(Ser969Leu)
-?/. - c.2908G>C likely benign r.(?) p.(Val970Leu)
./. - c.2914-113_2914-112del - r.(=) p.(=)
-?/. - c.2914-7T>A likely benign r.(=) p.(=)
?/. - c.2917G>A VUS r.(?) p.(Gly973Arg)
+?/. - c.3262G>A likely pathogenic r.(?) p.(Ala1088Thr)
./. - c.3267+42T>G - r.(=) p.(=)
-?/. - c.3270C>T likely benign r.(?) p.(=)
-/. - c.3404+7A>G benign r.(=) p.(=)
./. - c.3404+7A>G - r.(=) p.(=)
./. - c.3404+7A>G - r.(=) p.(=)
./. - c.3404+241G>A - r.(=) p.(=)
./. - c.3404+241G>A - r.(=) p.(=)
./. - c.3404+293G>A - r.(=) p.(=)
./. - c.3404+293G>A - r.(=) p.(=)
./. - c.3623+57G>A - r.(=) p.(=)
./. - c.3623+57G>A - r.(=) p.(=)
./. - c.3623+178C>G - r.(=) p.(=)
./. - c.3623+178C>G - r.(=) p.(=)
-/. - c.3693C>T benign r.(?) p.(=)
./. - c.*6777A>C - r.(=) p.(=)
./. - c.*6777A>C - r.(=) p.(=)
./. - c.*6878A>C - r.(=) p.(=)
./. - c.*6878A>C - r.(=) p.(=)
./. - c.*7015T>C - r.(=) p.(=)
./. - c.*7015T>C - r.(=) p.(=)
./. - c.*7233A>G - r.(=) p.(=)
./. - c.*8247_*8248del - r.(=) p.(=)
./. - c.*8269_*8270del - r.(=) p.(=)
./. - c.*8278A>G - r.(=) p.(=)
./. - c.*8589A>G - r.(=) p.(=)
./. - c.*8589A>G - r.(=) p.(=)
Legend