Full data view for gene ASS1

Information The variants shown are described using the NM_000050.4 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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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     
+/. 6i c.421-2A>G r.421_495del p.Val141_Lys165del Parent #1 - pathogenic g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kobayashi 1994, PubMed: Kobayashi 1995 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTLN1 PatN3 PubMed: Kobayashi 1994 - F - Japan - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kakinoki 1997 - - Germline - - MspI- - - DNA SEQ - - CTLN1 PatN30 PubMed: Kakinoki 1997 - - - Japan - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.421_495del p.del Parent #1 - pathogenic g.133342110A>G g.130466723A>G - - ASS1_000081 patient chromosomes Kobayashi ASH1989 A201, PubMed: Kobayashi 1995, OMIM:var0003 - - Germline - 19/33 - - - DNA, RNA SEQ - - CTLN1 - - - - - Japan - - - - - 9 Johan den Dunnen
+/. 6i c.421-2A>G r.421_495del p.del Parent #2 - pathogenic g.133342110A>G g.130466723A>G - - ASS1_000081 patient chromosomes Kobayashi ASH1989 A201, PubMed: Kobayashi 1995, OMIM:var0003 - - Germline - 19/33 - - - DNA, RNA SEQ - - CTLN1 - - - - - Japan - - - - - 9 Johan den Dunnen
+/. 6i c.421-2A>G r.421_495del p.del Unknown - pathogenic g.133342110A>G g.130466723A>G - - ASS1_000081 patient chromosomes Kobayashi ASH1989 A201, PubMed: Kobayashi 1995, OMIM:var0003 - - Germline - 19/33 - - - DNA, RNA SEQ - - CTLN1 - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.spl p.? Parent #2 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kakinoki 1997 - - Germline - - - - - DNA SEQ - - CTLN1 PatN28 PubMed: Kakinoki 1997 - - - Japan - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.spl p.? Parent #1 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kakinoki 1997 - - Germline - - - - - DNA SEQ - - CTLN1 PatN27 PubMed: Kakinoki 1997 - - - Japan - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.421_495del p.Val141_Lys165del Parent #2 - pathogenic g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kobayashi 1994, PubMed: Kobayashi 1995 - - Germline - - - - - DNA SEQ - - CTLN1 PatN8 PubMed: Kobayashi 1994 - M - Japan - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.421_495del p.Val141_Lys165del Parent #2 - pathogenic g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kobayashi 1994, PubMed: Kobayashi 1995 - - Germline - - - - - DNA SEQ - - CTLN1 PatN1 PubMed: Kobayashi 1994 - F - Japan - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.421_495del p.Val141_Lys165del Parent #2 - pathogenic (recessive) g.133342110A>G g.130466723A>G del ex7 - ASS1_000081 - PubMed: Kobayashi 1990, PubMed: Kobayashi 1994, PubMed: Kobayashi 1995 - - Germline - - - - - DNA SEQ - - CTLN1 PatRI PubMed: Kobayashi 1990, PubMed: Kobayashi 1994 - F - Japan - - - - - 1 Johan den Dunnen
+/. - c.421-2A>G r.spl? p.? Unknown - pathogenic g.133342110A>G g.130466723A>G ASS1(NM_000050.4):c.421-2A>G - ASS1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6i c.421-2A>G r.(421_495del) p.(Val141_Lys165del) Both (homozygous) - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kobayashi 1995 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 6i c.421-2A>G r.(421_495del) p.(Val141_Lys165del) Both (homozygous) - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kobayashi 1995 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 6i c.421-2A>G r.(421_495del) p.(Val141_Lys165del) Both (homozygous) - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kobayashi 1995 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 6i c.421-2A>G r.(421_495del) p.(Val141_Lys165del) Both (homozygous) - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kobayashi 1995 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 6i c.421-2A>G r.(421_495del) p.(Val141_Lys165del) Parent #1 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kobayashi 1995 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 6i c.421-2A>G r.(421_495del) p.(Val141_Lys165del) Parent #1 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kobayashi 1995 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 6i c.421-2A>G r.421_495del p.Val141_Lys165del Parent #1 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kobayashi 1994, PubMed: Kobayashi 1995 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTLN1 PatN14 PubMed: Kobayashi 1994, PubMed: Kobayashi 1995, PubMed: Kakinoki 1997 - - - Japan - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.(421_495del) p.(Val141_Lys165del) Parent #1 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kobayashi 1995 - - Germline - - - - - DNA SEQ - - CTLN1 PatN12 PubMed: Kobayashi 1995 - - - Japan - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.(421_495del) p.(Val141_Lys165del) Both (homozygous) - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kobayashi 1995 - - Germline - - - - - DNA SEQ - - CTLN1 PatN16 PubMed: Kobayashi 1995 - - - Japan - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.(421_495del) p.(Val141_Lys165del) Both (homozygous) - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kobayashi 1995 - - Germline - - - - - DNA SEQ - - CTLN1 PatN13 PubMed: Kobayashi 1995 - - - Japan - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.(421_495del) p.(Val141_Lys165del) Both (homozygous) - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kobayashi 1995 - - Germline - - - - - DNA SEQ - - CTLN1 PatN7 PubMed: Kobayashi 1995 - - - Japan - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.(421_495del) p.(Val141_Lys165del) Both (homozygous) - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kobayashi 1995 - - Germline - - - - - DNA SEQ - - CTLN1 PatN4 PubMed: Kobayashi 1995 - - - Japan - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.(421_495del) p.(Val141_Lys165del) Both (homozygous) - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kobayashi 1995 - - Germline - - - - - DNA SEQ - - CTLN1 PatN2 PubMed: Kobayashi 1995 - - - Japan - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.421_495del p.Val141_Lys165del Parent #1 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kakinoki 1997 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTLN1 N29 PubMed: Kakinoki 1997 - - - Japan - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.(421_495del) p.(Val141_Lys165del) Both (homozygous) - pathogenic (recessive) g.133342110A>G g.130466723A>G IVS6-2A>G - ASS1_000081 plasma citrulline 4000 μmol/L PubMed: Gao 2003 - - Germline - - - - - DNA SEQ - - CTLN1 Pat386 PubMed: Gao 2003 - - - Japan - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.(421_495del) p.(Val141_Lys165del) Both (homozygous) - pathogenic (recessive) g.133342110A>G g.130466723A>G IVS6-2A>G - ASS1_000081 plasma citrulline 3350 μmol/L PubMed: Gao 2003 - - Germline - - - - - DNA SEQ - - CTLN1 Pat584 PubMed: Gao 2003 - - - Japan - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.421_495del p.Val141_Lys165del Maternal (confirmed) - pathogenic (recessive) g.133342110A>G - - - ASS1_000081 - PubMed: Li 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTLN1 PatAC PubMed: Li 2001, - - - China - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.(421_495del) p.(Val141_Lys165del) Both (homozygous) - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kakinoki 1997 - - Germline - - - - - DNA SEQ - - ? PatN17 PubMed: Kakinoki 1997 fetus - - - - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.spl p.? Paternal (inferred) - pathogenic (recessive) g.133342110A>G g.130466723A>G IVS6-2A>G - ASS1_000081 plasma citrulline 4145 umol/L PubMed: Ban 2001 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Ban 2001 2-generation family, 1 affected, unaffected heterozygous parents F - Japan - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.421_495del p.Val141_Lys165del Parent #2 - pathogenic (recessive) g.133342110A>G g.130466723A>G IVS6-2A>G - ASS1_000081 plasma citrulline elevated PubMed: Hong 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTLN1 PatN1 PubMed: Hong 2000 - - - Korea, South (Republic) - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.421_495del p.Val141_Lys165del Maternal (confirmed) - pathogenic (recessive) g.133342110A>G g.130466723A>G IVS6-2A>G - ASS1_000081 plasma citrulline elevated PubMed: Hong 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTLN1 patient/PatN2 PubMed: Hong 2000, PubMed: Hong 2000 - - - Korea - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.spl? p.? Parent #1 - pathogenic (recessive) g.133342110A>G g.130466723A>G IVS6-2A>G - ASS1_000081 - PubMed: Hong 2000 - - Germline - - - - - DNA SEQ - - CTLN1 PatN3 PubMed: Hong 2000 - - - Korea - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.spl p.? Parent #1 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Japan - - - - - 1 Johan den Dunnen
+/. 6i c.421-2A>G r.spl p.? Parent #1 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.421-2A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 plasma citrulline 2033 umol/L PubMed: Lee 2013 - - Germline - - - - - DNA SEQ - - CTLN1 Fam2Pat2 PubMed: Lee 2013 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.421-2A>G r.spl p.? Parent #1 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 plasma citrulline 1836 umol/L PubMed: Lee 2013 - - Germline - - - - - DNA SEQ - - CTLN1 Fam5Pat5 PubMed: Lee 2013 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.421-2A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 plasma citrulline 419 umol/L PubMed: Lee 2013 - - Germline - - - - - DNA SEQ - - CTLN1 Fam9Pat9 PubMed: Lee 2013 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.421-2A>G r.spl p.? Parent #1 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 unknown variant 2nd chromosome; plasma citrulline 1669 umol/L PubMed: Lee 2013 - - Germline - - - - - DNA SEQ - - CTLN1 Fam10Pat10 PubMed: Lee 2013 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.421-2A>G r.spl p.? Parent #2 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 plasma citrulline 1840 umol/L PubMed: Lee 2013 - - Germline - - - - - DNA SEQ - - CTLN1 Fam1Pat1 PubMed: Lee 2013 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.421-2A>G r.spl p.? Parent #2 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 plasma citrulline 898 umol/L PubMed: Lee 2013 - - Germline - - - - - DNA SEQ - - CTLN1 Fam4Pat4 PubMed: Lee 2013 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.421-2A>G r.spl p.? Parent #2 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 plasma citrulline 2346 umol/L PubMed: Lee 2013 - - Germline - - - - - DNA SEQ - - CTLN1 Fam6Pat6 PubMed: Lee 2013 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.421-2A>G r.spl p.? Parent #2 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 plasma citrulline 2762 umol/L PubMed: Lee 2013 - - Germline - - - - - DNA SEQ - - CTLN1 Fam7Pat7 PubMed: Lee 2013 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.421-2A>G r.spl p.? Parent #2 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 plasma citrulline 1376 umol/L PubMed: Lee 2013 - - Germline - - - - - DNA SEQ - - CTLN1 Fam11Pat11 PubMed: Lee 2013 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.421-2A>G r.spl p.? Parent #2 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 plasma citrulline 1912 umol/L PubMed: Lee 2013 - - Germline - - - - - DNA SEQ - - CTLN1 Fam12Pat12 PubMed: Lee 2013 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.421-2A>G r.spl p.? Parent #2 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 plasma citrulline 3094 umol/L PubMed: Lee 2013 - - Germline - - - - - DNA SEQ - - CTLN1 Fam16Pat16 PubMed: Lee 2013 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.421-2A>G r.spl p.? Parent #2 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 plasma citrulline 3273 umol/L PubMed: Lee 2013 - - Germline - - - - - DNA SEQ - - CTLN1 Fam18Pat19 PubMed: Lee 2013 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.421-2A>G r.spl p.? Parent #1 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 plasma citrulline 1936 umol/L PubMed: Woo 2013 - - Germline - - - - - DNA SEQ - - CTLN1 Pat3 PubMed: Woo 2013 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.421-2A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 plasma citrulline 2024 umol/L PubMed: Woo 2013 - - Germline - - - - - DNA SEQ - - CTLN1 Pat5 PubMed: Woo 2013 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.421-2A>G r.spl p.? Parent #1 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Woo 2013 - - Germline - - - - - DNA SEQ - - CTLN1 Pat6 PubMed: Woo 2013 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.421-2A>G r.spl p.? Parent #1 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Woo 2013 - - Germline - - - - - DNA SEQ - - CTLN1 Pat7 PubMed: Woo 2013 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.421-2A>G r.spl p.? Parent #1 - pathogenic (recessive) g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Woo 2013 - - Germline - - - - - DNA SEQ - - CTLN1 Pat8 PubMed: Woo 2013 - - - Korea - - - - - 1 Johan den Dunnen
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