Transcript #00023833 (NM_001122955.3, BSCL2 gene)

Transcript name transcript variant 1
Gene name BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin))
Chromosome 11
Transcript - NCBI ID NM_001122955.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001116427.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

349 entries on 4 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     
?/. - c.-17108C>G r.(?) p.(=) - - -
-?/. - c.-15669G>A r.(?) p.(=) - - -
?/? 1 c.-51C>G r.(?) p.(=) - 0.000 -
-/. - c.60C>G r.(?) p.(Asp20Glu) - - -
?/? 1 c.60C>G r.(?) p.(Asp20Glu) - 0.000 -
-?/. - c.60C>G r.(?) p.(Asp20Glu) - - -
-?/? 1 c.60C>G r.(?) p.(Asp20Glu) benign 0.002 Tolerated (1.00)
?/? 1 c.60C>G r.(?) p.(Asp20Glu) benign 0.002 Tolerated (1.00)
?/? 1 c.60C>G r.(?) p.(Asp20Glu) benign 0.002 Tolerated (1.00)
?/? 1 c.60C>G r.(?) p.(Asp20Glu) benign 0.002 Tolerated (1.00)
+/. - c.62A>T r.(?) p.(Gln21Leu) - - -
+/. - c.62A>T r.(?) p.(Gln21Leu) - - -
-?/. - c.88-662C>A r.(=) p.(=) - - -
?/? 1i c.88-62C>G r.(=) p.(=) - 0.000 -
?/. - c.100G>A r.(?) p.(Ala34Thr) - - -
-?/. - c.124C>T r.(?) p.(Arg42Cys) - - -
+?/. - c.124C>T r.(?) p.(Arg42Cys) - - -
?/? 2 c.124C>T r.(?) p.(Arg42Cys) possiblyDamaging 0.736 Deleterious(0.00)
-?/. - c.124C>T r.(?) p.(Arg42Cys) - - -
-?/. - c.131G>A r.(?) p.(Gly44Asp) - - -
?/. - c.133G>A r.(?) p.(Gly45Ser) - - -
?/? 2 c.166G>A r.(?) p.(Gly56Arg) possiblyDamaging 0.490 Deleterious(0.00)
?/. - c.184C>T r.(?) p.(Leu62Phe) - - -
?/? 2 c.232C>A r.(?) p.(Gln78Lys) possiblyDamaging 0.829 Tolerated (0.07)
+/. - c.280C>T r.(?) p.(Gln94*) - - -
+/. - c.280C>T r.(?) p.(Gln94*) - - -
+/. - c.280C>T r.(?) p.(Gln94*) - - -
+/. - c.280C>T r.(?) p.(Gln94*) - - -
+/? 2 c.346_347dup r.(?) p.(Tyr117SerfsTer40) - 0.000 -
+/? 2 c.346_347dup r.(?) p.(Tyr117SerfsTer40) - 0.000 -
+/? 2 c.346_347dup r.(?) p.(Tyr117SerfsTer40) - 0.000 -
+/? 2 c.346_347dup r.(?) p.(Tyr117SerfsTer40) - 0.000 -
+/? 2 c.346_347dup r.(?) p.(Tyr117SerfsTer40) - 0.000 -
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - - -
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - - -
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - - -
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - - -
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - 0.000 -
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - 0.000 -
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - 0.000 -
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - 0.000 -
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - - -
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - - -
?/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - 0.000 -
+/? 2 c.386delinsGGA r.(?) p.(Pro129ArgfsTer28) - 0.000 -
+/? 2 c.386delinsGGA r.(?) p.(Pro129ArgfsTer28) - 0.000 -
+/? 2 c.386delinsGGA r.(?) p.(Pro129ArgfsTer28) - 0.000 -
+/? 2i c.405-11A>G r.404_405ins405-10_405-1 p.Arg135SerfsTer4 - 0.000 -
+/? 3 c.424A>G r.(?) p.(Thr142Ala) - 0.000 -
+/? 3 c.424A>G r.(?) p.(Thr142Ala) - 0.000 -
?/. - c.446C>T r.(?) p.(Pro149Leu) - - -
+/. - c.455A>G r.(?) p.(Asn152Ser) - - -
+/. - c.455A>G r.(?) p.(Asn152Ser) - - -
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
?/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
?/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
?/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
?/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
?/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
?/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
?/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
?/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69)
+/. - c.455A>G r.(?) p.(Asn152Ser) - - -
+/. - c.455A>G r.(?) p.(Asn152Ser) - - -
+/. - c.455A>G r.(?) p.(Asn152Ser) - - -
+/. - c.460T>C r.(?) p.(Ser154Pro) - - -
+/. - c.461C>T r.(?) p.(Ser154Leu) - - -
+/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46)
+/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46)
+/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46)
+/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46)
+/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46)
+/. - c.461C>T r.(?) p.(Ser154Leu) - - -
?/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46)
?/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46)
?/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46)
?/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46)
?/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46)
?/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46)
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »