Full data view for gene ARG1

Information The variants shown are described using the NM_000045.3 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 1 c.32T>C r.(?) p.(ile11Thr) Parent #1 - likely pathogenic g.131894454T>C g.131573314T>C - - ARG1_000011 - PubMed: Uchino 1995, OMIM:var0008 - - Germline - - - 0 - DNA SEQ - - argininemia - - 3 related patients - - Puerto Rico - - 0 - - 3 Johan den Dunnen
+?/. 1 c.32T>C r.(?) p.(ile11Thr) Unknown - likely pathogenic g.131894454T>C g.131573314T>C - - ARG1_000011 E.coli expression cloning yields 12% protein activity PubMed: Uchino 1995, OMIM:var0008 - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 1 c.32T>C r.(?) p.(ile11Thr) Unknown - likely pathogenic g.131894454T>C g.131573314T>C - - ARG1_000011 - - - rs28941474 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 1i c.57+1G>A r.spl? p.? Parent #2 - pathogenic g.131894480G>A g.131573340G>A IVS1+1G>A - ARG1_000013 - PubMed: Uchino 1995, OMIM:var0010 - - Germline - - - 0 - DNA SEQ - - argininemia - - - - - Canada French - 0 - - 1 Johan den Dunnen
+/. 1i c.57+1G>A r.spl? p.? Parent #1 - pathogenic g.131894480G>A g.131573340G>A IVS1+1G>A - ARG1_000013 sporadic, consanguineous parents PubMed: Uchino 1995, OMIM:var0010 - - Germline - - - 0 - DNA SEQ - - argininemia - - - - yes Canada French - 0 - - 1 Johan den Dunnen
+/. 1i c.57+1G>A r.spl? p.? Parent #2 - pathogenic g.131894480G>A g.131573340G>A IVS1+1G>A - ARG1_000013 sporadic, consanguineous parents PubMed: Uchino 1995, OMIM:var0010 - - Germline - - - 0 - DNA SEQ - - argininemia - - - - yes Canada French - 0 - - 1 Johan den Dunnen
+/. 2 c.61C>T r.(spl?) p.(Arg21*) Parent #1 - pathogenic g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - DNA SEQ - - argininemia - - unrelated patients - - Portugal - - 0 - - 1 Johan den Dunnen
+/. 2 c.61C>T r.(spl?) p.(Arg21*) Parent #2 - pathogenic g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - DNA SEQ - - argininemia - - unrelated patients - - Portugal - - 0 - - 1 Johan den Dunnen
+/. 2 c.61C>T r.(spl?) p.(Arg21*) Parent #1 - pathogenic g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - DNA SEQ - - argininemia - - unrelated patients - - Portugal - - 0 - - 1 Johan den Dunnen
+/. 2 c.61C>T r.(spl?) p.(Arg21*) Parent #2 - pathogenic g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - DNA SEQ - - argininemia - - unrelated patients - - Portugal - - 0 - - 1 Johan den Dunnen
+/. 2 c.61C>T r.(spl?) p.(Arg21*) Parent #1 - pathogenic g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - DNA SEQ - - argininemia - - unrelated patients - - Portugal - - 0 - - 1 Johan den Dunnen
+/. 2 c.61C>T r.(spl?) p.(Arg21*) Parent #2 - pathogenic g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - DNA SEQ - - argininemia - - unrelated patients - - Portugal - - 0 - - 1 Johan den Dunnen
+/. 2 c.61C>T r.(spl?) p.(Arg21*) Parent #1 - pathogenic g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - DNA SEQ - - argininemia - - unrelated patients - - Portugal - - 0 - - 1 Johan den Dunnen
+/. 2 c.61C>T r.(spl?) p.(Arg21*) Parent #2 - pathogenic g.131897806C>T g.131576666C>T - - ARG1_000015 - PubMed: Cardoso 1999, OMIM:var0011 - - Germline - - NlaIII+ 0 - DNA SEQ - - argininemia - - unrelated patients - - Portugal - - 0 - - 1 Johan den Dunnen
-/. 2 c.62G>A r.(?) p.(Arg21Gln ) Parent #1 - benign g.131897807G>A g.131576667G>A - - ARG1_000001 - PubMed: Mitchell 2009 - - Germline - 1/94 - 0 - DNA MCA, SEQ - - ? - - - - - United States - - 0 - - 1 Johan den Dunnen
+/. 2 c.78del r.(?) p.(Gly27AlafsTer5) Maternal (confirmed) - pathogenic g.131897823del g.131576683del - - ARG1_000005 - PubMed: Haraguchi 1990, OMIM:var0002 - - Germline - - - 0 - DNA SEQ - - argininemia - - - F - Japan - - 0 - - 1 Johan den Dunnen
-?/. - c.231C>T r.(?) p.(Ser77=) Unknown - likely benign g.131900351C>T g.131579211C>T ARG1(NM_001244438.1):c.255C>T (p.S85=) - ARG1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.266_269del r.(?) p.fsX Paternal (confirmed) - pathogenic g.131900386_131900389del g.131579246_131579249del - - ARG1_000004 - PubMed: Haraguchi 1990, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - argininemia - - - F - Japan - - 0 - - 1 Johan den Dunnen
-/. 3 c.270C>T r.(?) p.(=) Parent #1 - benign g.131900390C>T g.131579250C>T Asn90Asn - ARG1_000002 - - - rs34504481 Germline - 5/94 - 0 - DNA MCA, SEQ - - ? - - - - - United States - - 0 - - 5 Johan den Dunnen
-/. 3 c.270C>T r.(?) p.(=) Parent #1 - benign g.131900390C>T g.131579250C>T Asn90Asn - ARG1_000002 - PubMed: Mitchell 2009 - - Germline - 5/94 - 0 - DNA MCA, SEQ - - ? - - - - - United States - - 0 - - 5 Johan den Dunnen
-/. - c.270C>T r.(?) p.(Asn90=) Unknown - benign g.131900390C>T g.131579250C>T ARG1(NM_001244438.2):c.294C>T (p.N98=), MED23(NM_015979.3):c.4096-4955G>A, MED23(NM_015979.4):c.4096-4955G>A - ARG1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.270C>T r.(?) p.(Asn90=) Unknown - benign g.131900390C>T g.131579250C>T ARG1(NM_001244438.2):c.294C>T (p.N98=), MED23(NM_015979.3):c.4096-4955G>A, MED23(NM_015979.4):c.4096-4955G>A - ARG1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.365G>A r.(?) p.(Trp122*) Paternal (confirmed) - pathogenic g.131902418G>A g.131581278G>A - - ARG1_000008 - PubMed: Uchino 1992, OMIM:var0005 - - Germline - - - 0 - DNA SEQ - - argininemia - - - - - Japan - - 0 - - 1 Johan den Dunnen
+/. 4 c.413G>T r.(?) p.(Gly138Val) Parent #1 - pathogenic g.131902466G>T g.131581326G>T - - ARG1_000012 - PubMed: Uchino 1995, OMIM:var0009 - - Germline - - - 0 - DNA SEQ - - argininemia - - - - - Canada French - 0 - - 1 Johan den Dunnen
+/. - c.465+1G>C r.spl? p.? Unknown - pathogenic g.131902519G>C - ARG1(NM_000045.3):c.465+1G>C - ARG1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5i c.466-31A>C r.(?) p.(=) Parent #1 - benign g.131903730A>C g.131582590A>C - - ARG1_000003 - PubMed: Mitchell 2009 - - Germline - 1/94 - 0 - DNA MCA, SEQ - - ? - - - - - United States - - 0 - - 1 Johan den Dunnen
+/. 4i c.466-2A>G r.spl? p.? Parent #1 - pathogenic g.131903759A>G g.131582619A>G IVS4-2A>G - ARG1_000014 sporadic, consanguineous parents PubMed: Uchino 1995, OMIM:var0011 - - Germline - - - 0 - DNA SEQ - - argininemia - - - - yes Pakistan - - 0 - - 1 Johan den Dunnen
+/. 4i c.466-2A>G r.spl? p.? Parent #2 - pathogenic g.131903759A>G g.131582619A>G IVS4-2A>G - ARG1_000014 sporadic, consanguineous parents PubMed: Uchino 1995, OMIM:var0011 - - Germline - - - 0 - DNA SEQ - - argininemia - - - - yes Pakistan - - 0 - - 1 Johan den Dunnen
-?/. - c.486C>A r.(?) p.(Phe162Leu) Unknown - likely benign g.131903781C>A - ARG1(NM_001244438.1):c.510C>A (p.F170L) - ARG1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.703G>C r.(?) p.(Gly235Arg) Maternal (confirmed) - pathogenic g.131904532G>C g.131583392G>C - - ARG1_000009 - PubMed: Uchino 1992, OMIM:var0006 - - Germline - - - 0 - DNA SEQ - - argininemia - - - - - Japan - - 0 - - 1 Johan den Dunnen
+/. 7 c.703G>C r.(?) p.(Gly235Arg) Parent #1 - pathogenic g.131904532G>C g.131583392G>C - - ARG1_000009 - PubMed: Uchino 1992, OMIM:var0006 - - Germline - - - 0 - DNA SEQ - - argininemia - - - - - Japan - - 0 - - 1 Johan den Dunnen
+/. 7 c.703G>C r.(?) p.(Gly235Arg) Parent #2 - pathogenic g.131904532G>C g.131583392G>C - - ARG1_000009 - PubMed: Uchino 1992, OMIM:var0006 - - Germline - - - 0 - DNA SEQ - - argininemia - - - - - Japan - - 0 - - 1 Johan den Dunnen
+/. 7 c.703G>C r.(?) p.(Gly235Arg) Parent #2 - pathogenic g.131904532G>C g.131583392G>C - - ARG1_000009 - PubMed: Uchino 1995 - - Germline - - - 0 - DNA SEQ - - argininemia - - 3 related patients - - Puerto Rico - - 0 - - 3 Johan den Dunnen
+/. 7 c.703G>C r.(?) p.(Gly235Arg) Unknown - pathogenic g.131904532G>C g.131583392G>C - - ARG1_000009 E.coli expression cloning yields less then 1% protein activity PubMed: Uchino 1995 - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.798A>C r.(?) p.(Lys266Asn) Unknown - VUS g.131904627A>C g.131583487A>C ARG1(NM_001244438.2):c.822A>C (p.K274N), MED23(NM_015979.3):c.4095+4222T>G - ARG1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.844del r.(?) p.(Leu282TrpfsTer8) Parent #1 - pathogenic g.131904923del g.131583783del 842delC - ARG1_000010 - PubMed: Uchino 1992, OMIM:var0007 - - Germline - - - 0 - DNA SEQ - - argininemia - - - - - Japan - - 0 - - 1 Johan den Dunnen
+/. 8 c.844del r.(?) p.(Leu282TrpfsTer8) Parent #2 - pathogenic g.131904923del g.131583783del 842delC - ARG1_000010 - PubMed: Uchino 1992, OMIM:var0007 - - Germline - - - 0 - DNA SEQ - - argininemia - - - - - Japan - - 0 - - 1 Johan den Dunnen
+/. 8 c.869C>G r.(?) p.(Thr290Ser) Parent #1 - pathogenic g.131904948C>G g.131583808C>G - - ARG1_000007 - PubMed: Grody 1992, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - argininemia - - - - - (United States) - - 0 - - 1 Johan den Dunnen
+/. 8 c.869C>G r.(?) p.(Thr290Ser) Parent #2 - pathogenic g.131904948C>G g.131583808C>G - - ARG1_000007 - PubMed: Grody 1992, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - argininemia - - - - - (United States) - - 0 - - 1 Johan den Dunnen
+/. 8 c.871C>G r.(?) p.(Arg291*) Parent #1 - pathogenic g.131904950C>G g.131583810C>G - - ARG1_000006 - PubMed: Grody 1992, OMIM:var0003 - - Germline - - - 0 - DNA SEQ - - argininemia - - - - - (United States) - - 0 - - 1 Johan den Dunnen
+/. 8 c.871C>G r.(?) p.(Arg291*) Parent #2 - pathogenic g.131904950C>G g.131583810C>G - - ARG1_000006 - PubMed: Grody 1992, OMIM:var0003 - - Germline - - - 0 - DNA SEQ - - argininemia - - - - - (United States) - - 0 - - 1 Johan den Dunnen
+/. 8 c.871C>G r.(?) p.(Arg291*) Unknown - pathogenic g.131904950C>G g.131583810C>G - - ARG1_000006 E.coli expression cloning yields less then 1% protein activity PubMed: Uchino 1995 - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*9184A>G r.(=) p.(=) Unknown - benign g.131914232A>G g.131593092A>G MED23(NM_004830.4):c.3312T>C (p.A1104=) - MED23_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*10223T>C r.(=) p.(=) Unknown - VUS g.131915271T>C g.131594131T>C - - MED23_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*10433A>G r.(=) p.(=) Unknown - likely benign g.131915481A>G g.131594341A>G MED23(NM_001270521.1):c.2996-6T>C (p.(=)) - ARG1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*10434A>C r.(=) p.(=) Unknown - VUS g.131915482A>C g.131594342A>C MED23(NM_001270521.1):c.2996-7T>G (p.(=)) - MED23_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*12693G>A r.(=) p.(=) Unknown - VUS g.131917741G>A g.131596601G>A MED23(NM_004830.4):c.2695C>T (p.R899*) - MED23_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*14483A>G r.(=) p.(=) Unknown - VUS g.131919531A>G g.131598391A>G MED23(NM_004830.4):c.2503T>C (p.S835P) - ARG1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*18352G>A r.(=) p.(=) Unknown - VUS g.131923400G>A g.131602260G>A MED23(NM_001270521.1):c.2053C>T (p.(Arg685Ter)) - MED23_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*18463T>C r.(=) p.(=) Unknown - likely benign g.131923511T>C g.131602371T>C MED23(NM_001270521.1):c.1942A>G (p.(Thr648Ala)) - ARG1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*19221C>T r.(=) p.(=) Unknown - pathogenic g.131924269C>T g.131603129C>T MED23(NM_004830.4):c.1832G>A (p.R611Q) - MED23_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*20283G>C r.(=) p.(=) Unknown - VUS g.131925331G>C g.131604191G>C MED23(NM_004830.4):c.1743C>G (p.I581M) - ARG1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*26260C>A r.(=) p.(=) Unknown - VUS g.131931308C>A g.131610168C>A MED23(NM_004830.4):c.955G>T (p.E319*) - ARG1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*39456C>A r.(=) p.(=) Unknown - VUS g.131944504C>A g.131623364C>A - - MED23_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*41006G>A r.(=) p.(=) Unknown - VUS g.131946054G>A g.131624914G>A MED23(NM_004830.4):c.235C>T (p.L79F) - MED23_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*43780_*43782del r.(=) p.(=) Unknown - VUS g.131948828_131948830del g.131627688_131627690del MED23(NM_001270521.1):c.40-7_40-5del (p.?) - ARG1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*43780_*43782dup r.(=) p.(=) Unknown - likely benign g.131948828_131948830dup g.131627688_131627690dup MED23(NM_001270521.1):c.40-5_40-4insTTT (p.?) - ARG1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*43781_*43782dup r.(=) p.(=) Unknown - likely benign g.131948829_131948830dup g.131627689_131627690dup MED23(NM_001270521.1):c.40-6_40-5insTT (p.?) - ARG1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*43782dup r.(?) p.(=) Unknown - benign g.131948830dup g.131627690dup MED23(NM_004830.4):c.40-5dupT - ARG1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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