Unique variants in gene ALMS1

This database is one of the "Eye disease" gene variant databases and the EURO-WABB
project
, the EU registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome
and other rare diabetes syndromes.
Information The variants shown are described using the NM_015120.4 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Germline/De novo/Somatic     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. 2 - c.34_35insGGAGGA - r.(?) p.(Leu12delinsArgArgMet) g.73613030_73613031insGGAGGA - ALMS1:c.69_74dupGGAGGA (E27_E28dup) - ALMS1_000282 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 2 - c.36_41del - r.(?) p.(Glu27_Glu28del) g.73613032_73613037del - ALMS1:c.69_74delGGAGGA (E27_E28del) - ALMS1_000286 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 2 - c.36_44del - r.(?) p.(Glu26_Glu28del) g.73613032_73613040del - ALMS1:c.66_74delGGAGGAGGA (E26_E28del) - ALMS1_000287 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 2 - c.39_44del - r.(?) p.(Glu27_Glu28del) g.73613035_73613040del - ALMS1:c.69_74delGGAGGA (E27_E28del) - ALMS1_000291 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 4 - c.40_41insGGA - r.(?) p.(Glu14delinsGlyLys) g.73613036_73613037insGGA - ALMS1:c.72_74dupGGA (E28dup) - ALMS1_000292 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.40_41insGGAGGA - r.(?) p.(Glu14delinsGlyArgLys) g.73613036_73613037insGGAGGA - ALMS1:c.72_77dupGGAGGA (E28_E29dup) - ALMS1_000293 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.42_44del - r.(?) p.(Glu28del) g.73613038_73613040del - ALMS1:c.72_74delGGA (E28del) - ALMS1_000294 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 2 - c.43_44insGGAGGA - r.(?) p.(Glu15delinsGlyArgLys) g.73613039_73613040insGGAGGA - ALMS1:c.69_74dupGGAGGA (E27_E28dup) - ALMS1_000296 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 3 - c.48_50del - r.(?) p.(Glu28del) g.73613044_73613046del - ALMS1:c.72_74delGGA (E28del) - ALMS1_000298 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.69_74dup - r.(?) p.(Glu27_Glu28dup) g.73613065_73613070dup - ALMS1:NM_015120.4:c.35_36insGGAGGA, ALMS1:NM_015120.4:c.38_39insGGAGGA - ALMS1_000284 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 2 - c.72_74dup - r.(?) p.(Glu28dup) g.73613068_73613070dup - ALMS1:NM_015120.4:c.35_36insGGA - ALMS1_000283 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 2 - c.764+20T>A - r.(=) p.(=) g.73650122T>A - ALMS1:c.764+20T>A - ALMS1_000305 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
+/., +?/. 2 5 c.808C>T - r.(?) p.(Arg270*) g.73651601C>T g.73424473C>T - - ALMS1_000281 - PubMed: Lazar 2015; Journal: Lazar 2015, PubMed: Lazar 2015, Journal: Lazar 2015 - - Germline yes - - - - -
./. 2 - c.1267G>A - r.(?) p.(Val423Ile) g.73653610G>A - ALMS1:c.1267G>A (V423I) - ALMS1_000316 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 3 - c.1453A>G - r.(?) p.(Ile485Val) g.73675110A>G - ALMS1:c.1453A>G (I485V) - ALMS1_000320 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.1606C>G - r.(?) p.(Leu536Val) g.73675263C>G - ALMS1:c.1606C>G (L536V) - ALMS1_000324 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 2 - c.2012T>G - r.(?) p.(Val671Gly) g.73675669T>G - ALMS1:c.2012T>G (V671G) - ALMS1_000329 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 4 - c.2033A>G - r.(?) p.(Tyr678Cys) g.73675690A>G - ALMS1:c.2033A>G (Y678C) - ALMS1_000254 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: DDDS 2015, Journal: DDDS 2015 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam
./. 1 - c.2062A>G - r.(?) p.(Thr688Ala) g.73675719A>G - ALMS1:ENST00000264448.6:c.2062A>G (Thr688Ala) - ALMS1_000433 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. 2 - c.2187C>T - r.(=) p.(=) g.73675844C>T - ALMS1:c.2187C>T (=) - ALMS1_000331 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 2 - c.2761C>T - r.(=) p.(=) g.73676418C>T - ALMS1:c.2761C>T (=) - ALMS1_000333 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 2 - c.4225G>C - r.(?) p.(Ala1409Pro) g.73677882G>C - ALMS1:c.4225G>C (A1409P) - ALMS1_000343 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 3 - c.8442A>G - r.(=) p.(=) g.73717531A>G - ALMS1:c.8442A>G (=) - ALMS1_000379 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.9605A>G - r.(?) p.(Gln3202Arg) g.73746970A>G - ALMS1:c.9605A>G (Q3202R), ALMS1:NM_015120.4:c.9605A>G - ALMS1_000395 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 1 - c.9776A>C - r.(?) p.(Asp3259Ala) g.73747141A>C - - - ALMS1_000255 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - -
./. 3 - c.10269G>C - r.(?) p.(Lys3423Asn) g.73786157G>C - ALMS1:c.10269G>C (K3423N) - ALMS1_000404 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 16 c.10945G>T - r.(?) p.(Glu3649*) g.73799952G>T - - - ALMS1_000027 not in 400 control chromosomes PubMed: Wang 2011, Journal: Wang 2011 - - Germline yes - - - - -
./. 3 - c.11220G>A - r.(=) p.(=) g.73800227G>A - ALMS1:c.11220G>A (=) - ALMS1_000415 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.11291C>A ACMG 4 - - g.73800298C>A - - - ALMS1_000256 - Trujillano et al., submitted - - Germline - - - - - Daniel Trujillano
./. 3 - c.11638C>T - r.(?) p.(His3880Tyr) g.73826621C>T - ALMS1:c.11638C>T (H3880Y) - ALMS1_000420 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.11789A>G - r.(?) p.(Glu3930Gly) g.73827928A>G - ALMS1:c.11789A>G (E3930G), ALMS1:NM_015120.4:c.11789A>G - ALMS1_000423 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
./. 2 - c.11818G>A - r.(?) p.(Gly3940Ser) g.73827957G>A - ALMS1:c.11818G>A (G3940S) - ALMS1_000424 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.12001C>T - r.(?) p.(Arg4001Trp) g.73828453C>T - ALMS1:c.12001C>T (R4001W) - ALMS1_000427 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.12086G>A - r.(?) p.(Arg4029Lys) g.73828538G>A - ALMS1:c.12086G>A (R4029K) - ALMS1_000429 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
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