Unique variants in the HSPG2 gene

Information The variants shown are described using the NM_005529.5 transcript reference sequence.

98 entries on 1 page. Showing entries 1 - 98.
Legend   How to query  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

Owner     
./. 1 - c.244+40C>T 244 r.(=) p.(=) - intron 40 g.22222375G>A - HSPG2_000177 - - LOVD
./. 31 - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. 25 - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. 20 - c.474G>T 474 r.(?) p.(=) - coding-synonymous - g.22216574C>A - HSPG2_000103 - - LOVD
./. 1 - c.703+40G>A 703 r.(=) p.(=) - intron 40 g.22214391C>T - HSPG2_000176 - - LOVD
./. 3 - c.704-16C>T 704 r.(=) p.(=) - intron 16 g.22214183G>A - HSPG2_000175 - - LOVD
./. 23 - c.744T>C 744 r.(?) p.(=) - coding-synonymous - g.22214127A>G - HSPG2_000100 - - LOVD
./. 6 - c.825G>A 825 r.(?) p.(=) - coding-synonymous - g.22214046C>T - HSPG2_000174 - - LOVD
./. 1 - c.831C>T 831 r.(?) p.(=) - coding-synonymous - g.22214040G>A - HSPG2_000173 - - LOVD
./. 8 - c.1211-30G>A 1211 r.(=) p.(=) - intron 30 g.22211680C>T - HSPG2_000172 - - LOVD
./. 31 - c.1507+38A>G 1507 r.(=) p.(=) - intron 38 g.22211222T>C - HSPG2_000099 - - LOVD
./. 13 - c.1507+43C>T 1507 r.(=) p.(=) - intron 43 g.22211217G>A - HSPG2_000098 - - LOVD
./. 31 - c.1655-35G>A 1655 r.(=) p.(=) - intron 35 g.22208030C>T - HSPG2_000171 - - LOVD
./. 4 - c.1776C>T 1776 r.(?) p.(=) - coding-synonymous - g.22207874G>A - HSPG2_000170 - - LOVD
./. 31 - c.1818+15_1818+27del 1818 r.(=) p.(=) - intron 15 g.22207805_22207817del - HSPG2_000097 - - LOVD
./. 31 - c.1912A>G 1912 r.(?) p.(Met638Val) - missense - g.22207235T>C - HSPG2_000096 - - LOVD
./. 30 - c.2109C>T 2109 r.(?) p.(=) - coding-synonymous - g.22206942G>A - HSPG2_000095 - - LOVD
./. 30 - c.2294A>G 2294 r.(?) p.(Asn765Ser) - missense - g.22206649T>C - HSPG2_000094 - - LOVD
./. 1 - c.2343+21C>T 2343 r.(=) p.(=) - intron 21 g.22206579G>A - HSPG2_000169 - - LOVD
./. 31 - c.2471+21A>G 2471 r.(=) p.(=) - intron 21 g.22205466T>C - HSPG2_000093 - - LOVD
./. 14 - c.2685+49C>T 2685 r.(=) p.(=) - intron 49 g.22204630G>A - HSPG2_000168 - - LOVD
./. 1 - c.2869A>C 2869 r.(?) p.(Asn957His) - missense - g.22202856T>G - HSPG2_000167 - - LOVD
./. 3 - c.3183+24delG 3183 r.(=) p.(=) - intron 24 g.22202332del - HSPG2_000166 - - LOVD
./. 31 - c.3302+13G>A 3302 r.(=) p.(=) - intron 13 g.22202109C>T - HSPG2_000092 - - LOVD
./. 5 - c.3360G>A 3360 r.(?) p.(=) - coding-synonymous - g.22201438C>T - HSPG2_000165 - - LOVD
./. 4 - c.3557G>A 3557 r.(?) p.(Arg1186Gln) - missense - g.22200998C>T - HSPG2_000164 - - LOVD
./. 6 - c.3688G>A 3688 r.(?) p.(Gly1230Ser) - missense - g.22200473C>T - HSPG2_000163 - - LOVD
./. 30 - c.3793+47C>T 3793 r.(=) p.(=) - intron 47 g.22199821G>A - HSPG2_000088 - - LOVD
./. 1 - c.3794-3C>A 3794 r.spl? p.? - splice 3 g.22199587G>T - HSPG2_000162 - - LOVD
./. 1 - c.3888+41C>T 3888 r.(=) p.(=) - intron 41 g.22199449G>A - HSPG2_000161 - - LOVD
./. 19 - c.3897G>A 3897 r.(?) p.(=) - coding-synonymous - g.22199245C>T - HSPG2_000160 - - LOVD
./. 31 - c.4029+32T>A 4029 r.(=) p.(=) - intron 32 g.22199081A>T - HSPG2_000159 - - LOVD
./. 1 - c.4396-5C>T 4396 r.spl? p.? - splice 5 g.22191571G>A - HSPG2_000158 - - LOVD
./. 1 - c.4437G>A 4437 r.(?) p.(=) - coding-synonymous - g.22191525C>T - HSPG2_000157 - - LOVD
./. 29 - c.4508C>T 4508 r.(?) p.(Ala1503Val) - missense - g.22191454G>A - HSPG2_000087 - - LOVD
./. 1 - c.4877G>A 4877 r.(?) p.(Arg1626His) - missense - g.22188328C>T - HSPG2_000156 - - LOVD
./. 25 - c.5394+39T>C 5394 r.(=) p.(=) - intron 39 g.22183739A>G - HSPG2_000085 - - LOVD
./. 2 - c.5575+31C>A 5575 r.(=) p.(=) - intron 31 g.22183477G>T - HSPG2_000084 - - LOVD
./. 30 - c.5575+37T>G 5575 r.(=) p.(=) - intron 37 g.22183471A>C - HSPG2_000082 - - LOVD
./. 3 - c.5702-5G>A 5702 r.spl? p.? - splice 5 g.22182173C>T - HSPG2_000155 - - LOVD
./. 3 - c.6133+19T>C 6133 r.(=) p.(=) - intron 19 g.22181322A>G - HSPG2_000080 - - LOVD
./. 1 - c.6402G>A 6402 r.(?) p.(=) - coding-synonymous - g.22180723C>T - HSPG2_000079 - - LOVD
./. 1 - c.6552G>A 6552 r.(?) p.(=) - coding-synonymous - g.22179451C>T - HSPG2_000154 - - LOVD
./. 3 - c.6673G>A 6673 r.(?) p.(Gly2225Ser) - missense - g.22179244C>T - HSPG2_000074 - - LOVD
./. 10 - c.7294+25G>A 7294 r.(=) p.(=) - intron 25 g.22176831C>T - HSPG2_000153 - - LOVD
./. 14 - c.7446+34C>A 7446 r.(=) p.(=) - intron 34 g.22176500G>T - HSPG2_000152 - - LOVD
./. 1 - c.7509C>T 7509 r.(?) p.(=) - coding-synonymous - g.22175462G>A - HSPG2_000151 - - LOVD
./. 1 - c.7532C>T 7532 r.(?) p.(Thr2511Ile) - missense - g.22175439G>A - HSPG2_000150 - - LOVD
./. 26 - c.7738-14T>C 7738 r.(=) p.(=) - intron 14 g.22174600A>G - HSPG2_000071 - - LOVD
./. 16 - c.7873+25A>C 7873 r.(=) p.(=) - intron 25 g.22174426T>G - HSPG2_000069 - - LOVD
./. 1 - c.7874-47A>G 7874 r.(=) p.(=) - intron 47 g.22174380T>C - HSPG2_000149 - - LOVD
./. 1 - c.7874-35C>A 7874 r.(=) p.(=) - intron 35 g.22174368G>T - HSPG2_000148 - - LOVD
./. 1 - c.7960G>A 7960 r.(?) p.(Ala2654Thr) - missense - g.22174247C>T - HSPG2_000147 - - LOVD
./. 2 - c.8026-5T>C 8026 r.spl? p.? - splice 5 g.22173990A>G - HSPG2_000068 - - LOVD
./. 7 - c.8465-36G>C 8465 r.(=) p.(=) - intron 36 g.22170828C>G - HSPG2_000146 - - LOVD
./. 6 - c.8622C>T 8622 r.(?) p.(=) - coding-synonymous - g.22169926G>A - HSPG2_000145 - - LOVD
./. 2 - c.8759-39C>T 8759 r.(=) p.(=) - intron 39 g.22169453G>A - HSPG2_000144 - - LOVD
./. 2 - c.8910+41G>A 8910 r.(=) p.(=) - intron 41 g.22169222C>T - HSPG2_000143 - - LOVD
./. 1 - c.8939T>A 8939 r.(?) p.(Leu2980His) - missense - g.22168845A>T - HSPG2_000065 - - LOVD
./. 5 - c.8983A>G 8983 r.(?) p.(Ser2995Gly) - missense - g.22168801T>C - HSPG2_000064 - - LOVD
./. 1 - c.9052+28G>A 9052 r.(=) p.(=) - intron 28 g.22168704C>T - HSPG2_000142 - - LOVD
./. 30 - c.9194-50G>A 9194 r.(=) p.(=) - intron 50 g.22168216C>T - HSPG2_000141 - - LOVD
./. 11 - c.9328+44C>A 9328 r.(=) p.(=) - intron 44 g.22167988G>T - HSPG2_000140 - - LOVD
./. 2 - c.9329-7C>T 9329 r.(=) p.(=) - splice 7 g.22167785G>A - HSPG2_000139 - - LOVD
./. 2 - c.9502G>A 9502 r.(?) p.(Ala3168Thr) - missense - g.22167605C>T - HSPG2_000063 - - LOVD
./. 1 - c.9540G>A 9540 r.(?) p.(=) - coding-synonymous - g.22166484C>T - HSPG2_000138 - - LOVD
./. 4 - c.9766C>T 9766 r.(?) p.(His3256Tyr) - missense - g.22165987G>A - HSPG2_000137 - - LOVD
./. 10 - c.9852T>C 9852 r.(?) p.(=) - coding-synonymous - g.22165901A>G - HSPG2_000062 - - LOVD
./. 6 - c.10260C>T 10260 r.(?) p.(=) - coding-synonymous - g.22163390G>A - HSPG2_000061 - - LOVD
./. 1 - c.10280G>A 10280 r.(?) p.(Arg3427Gln) - missense - g.22163370C>T - HSPG2_000136 - - LOVD
./. 6 - c.10617C>T 10617 r.(?) p.(=) - coding-synonymous - g.22161275G>A - HSPG2_000135 - - LOVD
./. 1 - c.10702G>A 10702 r.(?) p.(Val3568Ile) - missense - g.22161190C>T - HSPG2_000134 - - LOVD
./. 15 - c.10831-41G>A 10831 r.(=) p.(=) - intron 41 g.22160148C>T - HSPG2_000133 - - LOVD
./. 1 - c.10831-33A>G 10831 r.(=) p.(=) - intron 33 g.22160140T>C - HSPG2_000132 - - LOVD
./. 5 - c.10831-4G>A 10831 r.spl? p.? - splice 4 g.22160111C>T - HSPG2_000131 - - LOVD
./. 9 - c.10895G>A 10895 r.(?) p.(Arg3632Gln) - missense - g.22160043C>T - HSPG2_000059 - - LOVD
./. 3 - c.10918G>A 10918 r.(?) p.(Val3640Ile) - missense - g.22160020C>T - HSPG2_000130 - - LOVD
./. 5 - c.11187G>T 11187 r.(?) p.(=) - coding-synonymous - g.22159008C>A - HSPG2_000129 - - LOVD
./. 1 - c.11298C>G 11298 r.(?) p.(=) - coding-synonymous - g.22158199G>C - HSPG2_000128 - - LOVD
./. 5 - c.11340T>C 11340 r.(?) p.(=) - coding-synonymous - g.22158157A>G - HSPG2_000056 - - LOVD
./. 7 - c.11352+25C>A 11352 r.(=) p.(=) - intron 25 g.22158120G>T - HSPG2_000127 - - LOVD
./. 29 - c.11562+19C>T 11562 r.(=) p.(=) - intron 19 g.22157689G>A - HSPG2_000055 - - LOVD
./. 3 - c.11601C>T 11601 r.(?) p.(=) - coding-synonymous - g.22157545G>A - HSPG2_000006 - - LOVD
./. 2 - c.11671+15C>T 11671 r.(=) p.(=) - intron 15 g.22157460G>A - HSPG2_000126 - - LOVD
./. 10 - c.11992+23G>A 11992 r.(=) p.(=) - intron 23 g.22155853C>T - HSPG2_000125 - - LOVD
./. 9 - c.11992+35A>G 11992 r.(=) p.(=) - intron 35 g.22155841T>C - HSPG2_000124 - - LOVD
./. 1 - c.12044G>A 12044 r.(?) p.(Arg4015His) - missense - g.22155521C>T - HSPG2_000123 - - LOVD
./. 1 - c.12212C>T 12212 r.(?) p.(Ala4071Val) - missense - g.22155353G>A - HSPG2_000122 - - LOVD
./. 10 - c.12312T>C 12312 r.(?) p.(=) - coding-synonymous - g.22154845A>G - HSPG2_000053 - - LOVD
./. 2 - c.12532+31C>T 12532 r.(=) p.(=) - intron 31 g.22154492G>A - HSPG2_000121 - - LOVD
./. 1 - c.12801G>T 12801 r.(?) p.(=) - coding-synonymous - g.22150813C>A - HSPG2_000120 - - LOVD
./. 23 - c.12900-45G>A 12900 r.(=) p.(=) - intron 45 g.22150257C>T - HSPG2_000119 - - LOVD
./. 5 - c.12952C>A 12952 r.(?) p.(=) - coding-synonymous - g.22150160G>T - HSPG2_000118 - - LOVD
./. 10 - c.12992G>A 12992 r.(?) p.(Ser4331Asn) - missense - g.22150120C>T - HSPG2_000117 - - LOVD
./. 1 - c.12994G>A 12994 r.(?) p.(Val4332Ile) - missense - g.22150118C>T - HSPG2_000116 - - LOVD
./. 30 - c.13050A>G 13050 r.(?) p.(=) - coding-synonymous - g.22149935T>C - LDLRAD2_000003 - - LOVD
./. 16 - c.*1645C>T 14821 r.(=) p.(=) - utr-3 - g.22148164G>A - HSPG2_000115 - - LOVD
./. 1 - c.*1838T>A 15014 r.(=) p.(=) - utr-3 - g.22147971A>T - HSPG2_000178 - - LOVD
Legend   How to query