All transcript 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.

62 entries on 1 page. Showing entries 1 - 62.
Legend  

Effect     

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/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 5 c.808C>T - r.(?) p.(Arg270*) g.73651601C>T g.73424473C>T - - ALMS1_000281 - PubMed: Lazar 2015; Journal: Lazar 2015 - - Germline yes - - 0 - Johan den Dunnen
+?/. 5 c.808C>T - r.(?) p.(Arg270*) g.73651601C>T g.73424473C>T - - ALMS1_000281 - PubMed: Lazar 2015, Journal: Lazar 2015 - - Germline - - - 0 - Pieter Klap
./. - c.1238-20A>G - r.(=) p.(=) g.73653561A>G - ALMS1:c.1238-20A>G - chr2_001300 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
./. - c.1252A>G - r.(?) p.(Lys418Glu) g.73653595A>G - ALMS1:c.1252A>G (K418E) - chr2_001353 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
./. - c.1267G>A - - - g.73653610G>A - ALMS1:c.1267G>A (V423I) - chr2_002683 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
./. - c.1267G>A - r.(?) p.(Val423Ile) g.73653610G>A - ALMS1:c.1267G>A (V423I) - chr2_002683 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
./. - c.1339C>G - r.(?) p.(Pro447Ala) g.73659326C>G - ALMS1:c.1339C>G (P447A) - chr2_002766 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
./. - c.1402G>C - r.(?) p.(Val468Leu) g.73659389G>C - ALMS1:c.1402G>C (V468L) - chr2_002684 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
./. - c.1433-70del - r.(=) p.(=) g.73675020del - ALMS1:c.1433-70delT - chr2_002685 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
./. - c.1453A>G - r.(?) p.(Ile485Val) g.73675110A>G - ALMS1:c.1453A>G (I485V) - chr2_000999 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
./. - c.1453A>G - r.(?) p.(Ile485Val) g.73675110A>G - ALMS1:c.1453A>G (I485V) - chr2_000999 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
./. - c.1453A>G - - - g.73675110A>G - ALMS1:c.1453A>G (I485V) - chr2_000999 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
./. - c.1569_1570insCTC - r.(?) p.(Ser523_Ser524insLeu) g.73675226_73675227insCTC - ALMS1:c.1571_1573dupCTC (S524_L525insP) - chr2_002687 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
./. - c.1570_1571insCTC - r.(?) p.(Ser524_Leu525insPro) g.73675228_73675230dup - ALMS1:c.1571_1572insCTC (S524dup) - chr2_002686 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
./. - c.1574_1576del - r.(?) p.(Leu525_Glu526delinsGln) g.73675231_73675233del - ALMS1:c.1574_1576delCTC (L525_E526delinsQ) - chr2_002767 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
./. - c.1606C>G - r.(?) p.(Leu536Val) g.73675263C>G - ALMS1:c.1606C>G (L536V) - chr2_002256 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
./. - c.1606C>G - - - g.73675263C>G - ALMS1:c.1606C>G (L536V) - chr2_002256 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
./. - c.1729del - r.(?) p.(Arg577Glyfs*17) g.73675386del - ALMS1:c.1729delA (R577Gfs*17) - chr2_002031 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
./. - c.1732del - r.(?) p.(Lys579Serfs*15) g.73675389del - ALMS1:c.1732delA (K579Sfs*15) - chr2_002027 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
./. - c.1769A>T - r.(?) p.(Asp590Val) g.73675426A>T - ALMS1:c.1769A>T (D590V) - chr2_001322 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
./. - c.1868A>G - r.(?) p.(His623Arg) g.73675525A>G - ALMS1:c.1868A>G (H623R) - chr2_001685 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
./. - c.2012T>G - r.(?) p.(Val671Gly) g.73675669T>G - ALMS1:c.2012T>G (V671G) - chr2_002538 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
./. - c.2012T>G - r.(?) p.(Val671Gly) g.73675669T>G - ALMS1:c.2012T>G (V671G) - chr2_002538 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
./. - c.2033A>G - r.(?) p.(Tyr678Cys) g.73675690A>G - - - ALMS1_000254 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
./. - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
./. - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
./. - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
./. - c.2149C>T - r.(?) p.(His717Tyr) g.73675806C>T - ALMS1:c.2149C>T (H717Y) - chr2_002768 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
./. - c.2187C>T - r.(=) p.(=) g.73675844C>T - ALMS1:c.2187C>T (=) - chr2_002539 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
./. - c.2187C>T - r.(=) p.(=) g.73675844C>T - ALMS1:c.2187C>T (=) - chr2_002539 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
./. - c.2761C>T - - - g.73676418C>T - ALMS1:c.2761C>T (=) - chr2_002258 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
./. - c.2761C>T - r.(=) p.(=) g.73676418C>T - ALMS1:c.2761C>T (=) - chr2_002258 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
./. - c.3190T>C - r.(?) p.(Ser1064Pro) g.73676847T>C - ALMS1:c.3190T>C (S1064P) - chr2_002689 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
./. - c.3809C>A - r.(?) p.(Pro1270Gln) g.73677466C>A - ALMS1:c.3809C>A (P1270Q) - chr2_002770 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
./. - c.3939A>C - - - g.73677596A>C - ALMS1:c.3939A>C (=) - chr2_001682 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
./. - c.3998A>G - r.(?) p.(Tyr1333Cys) g.73677655A>G - ALMS1:c.3998A>G (Y1333C) - chr2_001388 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
./. - c.4065G>C - r.(?) p.(Glu1355Asp) g.73677722G>C - ALMS1:c.4065G>C (E1355D) - chr2_002771 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
./. - c.4176A>G - r.(=) p.(=) g.73677833A>G - ALMS1:c.4176A>G (=) - chr2_001451 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
./. - c.5021A>G - r.(?) p.(Tyr1674Cys) g.73678678A>G - ALMS1:c.5021A>G (Y1674C) - chr2_001389 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
./. - c.5186A>G - r.(?) p.(Glu1729Gly) g.73678843A>G - ALMS1:c.5186A>G (E1729G) - chr2_001684 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
./. - c.5356A>G - r.(?) p.(Asn1786Asp) g.73679013A>G - ALMS1:c.5356A>G (N1786D) - chr2_001693 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
./. - c.5623A>G - r.(?) p.(Ile1875Val) g.73679280A>G - ALMS1:c.5623A>G (I1875V) - chr2_001455 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
./. - c.6356A>G - r.(?) p.(Lys2119Arg) g.73680013A>G - ALMS1:c.6362A>G (K2121R) - chr2_001667 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
./. - c.6455A>G - r.(?) p.(Gln2152Arg) g.73680112A>G - ALMS1:c.6455A>G (Q2152R) - chr2_001286 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
./. - c.7137A>G - r.(=) p.(=) g.73680794A>G - ALMS1:c.7137A>G (=) - chr2_001188 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
./. - c.7243A>G - r.(?) p.(Ser2415Gly) g.73680900A>G - ALMS1:c.7243A>G (S2415G) - chr2_001608 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
./. - c.8442A>G - r.(=) p.(=) g.73717531A>G - ALMS1:c.8442A>G (=) - chr2_001411 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
./. - c.8442A>G - r.(=) p.(=) g.73717531A>G - ALMS1:c.8442A>G (=) - chr2_001411 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
./. - c.8442A>G - r.(=) p.(=) g.73717531A>G - ALMS1:c.8442A>G (=) - chr2_001411 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
./. - c.8567A>G - r.(?) p.(Asn2856Ser) g.73717656A>G - ALMS1:c.8567A>G (N2856S) - chr2_001463 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
./. - c.8739A>G - r.(=) p.(=) g.73717828A>G - ALMS1:c.8739A>G (=) - chr2_001189 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
./. - c.8858A>G - r.(?) p.(Asp2953Gly) g.73717947A>G - ALMS1:c.8858A>G (D2953G) - chr2_002041 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
./. - c.9543del - r.(?) p.(Glu3182Argfs*3) g.73746908del - ALMS1:c.9549delA (E3184Rfs*3) - chr2_001664 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
./. - c.9605A>G - r.(?) p.(Gln3202Arg) g.73746970A>G - ALMS1:c.9605A>G (Q3202R) - chr2_001206 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
./. - c.9776A>C - r.(?) p.(Asp3259Ala) g.73747141A>C - - - ALMS1_000255 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
./. - c.10438A>G - r.(?) p.(Lys3480Glu) g.73799445A>G - ALMS1:c.10438A>G (K3480E) - chr2_001279 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
./. - c.10748A>T - r.(?) p.(Gln3583Leu) g.73799755A>T - ALMS1:c.10748A>T (Q3583L) - chr2_001207 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
./. - c.10920A>C - r.(=) p.(=) g.73799927A>C - ALMS1:c.10920A>C (=) - chr2_001269 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 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 - - 0 - Xia Wang
+?/. - c.11291C>A ACMG 4 - - g.73800298C>A - - - ALMS1_000256 - Trujillano et al., submitted - - Germline - - - 0 - Daniel Trujillano
./. - c.11350A>G - r.(?) p.(Ile3784Val) g.73800357A>G - ALMS1:c.11350A>G (I3784V) - chr2_001689 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
./. - c.11789A>G - r.(?) p.(Glu3930Gly) g.73827928A>G - ALMS1:c.11789A>G (E3930G) - chr2_001936 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
Legend