Csta Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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25 records found for search term Csta

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405279178	CV3217318	single nucleotide variant	NM_005213.4(CSTA):c.*10C>T	CSTA-related disorder [RCV003976760]	likely benign	3	122341577	122341577	Human		name , trait , alternate_id
8602048	CV38847	single nucleotide variant	NM_005213.4(CSTA):c.67-2A>T	Peeling skin syndrome 4 [RCV000022773]	pathogenic	3	122337545	122337545	Human	1	name
150460541	CV1275836	single nucleotide variant	NM_005213.4(CSTA):c.169-12A>C	not provided [RCV001709774]	benign	3	122341427	122341427	Human		name
150446812	CV1261418	single nucleotide variant	NM_005213.4(CSTA):c.169-209G>A	not provided [RCV001680092]	benign	3	122341230	122341230	Human		name
150478808	CV1273360	single nucleotide variant	NM_005213.4(CSTA):c.169-337C>T	not provided [RCV001696563]	benign	3	122341102	122341102	Human		name
150439462	CV1287042	single nucleotide variant	NM_005213.4(CSTA):c.105C>T (p.Tyr35=)	not provided [RCV001724957]	benign	3	122337585	122337585	Human		name
405688033	CV3245986	single nucleotide variant	NM_005213.4(CSTA):c.20C>T (p.Ser7Phe)	Inborn genetic diseases [RCV004372746]	uncertain significance	3	122325312	122325312	Human	1	name
10401317	CV204993	single nucleotide variant	NM_005213.4(CSTA):c.64A>T (p.Lys22Ter)	Peeling skin syndrome 4 [RCV000190494]\|not provided [RCV001007981]	pathogenic	3	122325356	122325356	Human	1	name
156141813	CV2208458	single nucleotide variant	NM_005213.4(CSTA):c.34G>A (p.Ala12Thr)	Inborn genetic diseases [RCV002697097]	uncertain significance	3	122325326	122325326	Human	1	name
407471669	CV3426145	single nucleotide variant	NM_005213.4(CSTA):c.50A>G (p.Gln17Arg)	Inborn genetic diseases [RCV004615753]	uncertain significance	3	122325342	122325342	Human	1	name
597665211	CV3651353	single nucleotide variant	NM_005213.4(CSTA):c.32C>A (p.Pro11His)	Inborn genetic diseases [RCV004979277]	uncertain significance	3	122325324	122325324	Human	1	name
598160268	CV3959507	single nucleotide variant	NM_005213.4(CSTA):c.90A>T (p.Lys30Asn)	Inborn genetic diseases [RCV005328735]	uncertain significance	3	122337570	122337570	Human	1	name
150502486	CV1223230	single nucleotide variant	NM_005213.4(CSTA):c.287C>T (p.Thr96Met)	not provided [RCV001621164]	benign	3	122341557	122341557	Human	3	name
150502486	CV1223230	single nucleotide variant	NM_005213.4(CSTA):c.287C>T (p.Thr96Met)	not provided [RCV001621164]	benign	3	122341557	122341558	Human	3	name
10401343	CV204994	single nucleotide variant	NM_005213.4(CSTA):c.172C>T (p.Arg58Ter)	Peeling skin syndrome 4 [RCV000190495]\|not provided [RCV001731426]	pathogenic\|likely pathogenic	3	122341442	122341442	Human	1	name
155990527	CV2374754	single nucleotide variant	NM_005213.4(CSTA):c.280G>A (p.Glu94Lys)	Inborn genetic diseases [RCV002733268]	uncertain significance	3	122341550	122341550	Human	1	name
243053739	CV2416388	single nucleotide variant	NM_005213.4(CSTA):c.250G>A (p.Gly84Arg)	not provided [RCV003149449]	uncertain significance	3	122341520	122341520	Human		name
405688028	CV3245985	single nucleotide variant	NM_005213.4(CSTA):c.125A>G (p.Gln42Arg)	Inborn genetic diseases [RCV004372745]	uncertain significance	3	122337605	122337605	Human	1	name
408367839	CV3516920	single nucleotide variant	NM_005213.4(CSTA):c.192T>A (p.Tyr64Ter)	CSTA-related disorder [RCV004759248]	pathogenic	3	122341462	122341462	Human		name , trait , alternate_id
597665214	CV3651354	single nucleotide variant	NM_005213.4(CSTA):c.173G>A (p.Arg58Gln)	Inborn genetic diseases [RCV004979278]	uncertain significance	3	122341443	122341443	Human	1	name
8602049	CV38848	single nucleotide variant	NM_005213.4(CSTA):c.256C>T (p.Gln86Ter)	Peeling skin syndrome 4 [RCV000022774]	pathogenic	3	122341526	122341526	Human	1	name
598244265	CV3895530	single nucleotide variant	NM_005213.4(CSTA):c.105C>A (p.Tyr35Ter)	Peeling skin syndrome 4 [RCV005365650]	likely pathogenic	3	122337585	122337585	Human	1	name
598219597	CV3959506	single nucleotide variant	NM_005213.4(CSTA):c.194T>C (p.Met65Thr)	Inborn genetic diseases [RCV005317413]	uncertain significance	3	122341464	122341464	Human	1	name
15156738	CV697777	single nucleotide variant	NM_005213.4(CSTA):c.273G>T (p.Lys91Asn)	not provided [RCV000946756]	benign	3	122341543	122341543	Human		name
13476170	CV443346	deletion	NM_005213.4(CSTA):c.102_103del (p.Tyr35fs)	not provided [RCV000520078]	likely pathogenic	3	122337582	122337583	Human		name

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