Full data view for gene AVPR1A

Information The variants shown are described using the NM_000706.4 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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.(-5583_-5518)ins10 r.(=) p.(=) Unknown - likely pathogenic g.(63550134_63550199) - RS3 allele 5 - AVPR1A_000014 ?334 allele Wassink 2004; influences expression level PubMed: Bachner-Melman 2005 - - Germline - 366/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
+?/? _1 c.(-5583_-5518)ins12 r.(=) p.(=) Unknown - likely pathogenic g.(63550134_63550199) - RS3 allele 6 - AVPR1A_000015 ?336 allele Wassink 2004; influences expression level PubMed: Bachner-Melman 2005 - - Germline - 217/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
+?/? _1 c.(-5583_-5518)ins14 r.(=) p.(=) Unknown - likely pathogenic g.(63550134_63550199) - RS3 allele 7 - AVPR1A_000016 ?338 allele Wassink 2004; influences expression level PubMed: Bachner-Melman 2005 - - Germline - 137/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
+?/? _1 c.(-5583_-5518)ins16 r.(=) p.(=) Unknown - likely pathogenic g.(63550134_63550199) - RS3 allele 8 - AVPR1A_000017 ?340 allele Wassink 2004; influences expression level PubMed: Bachner-Melman 2005 - - Germline - 34/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
+?/? _1 c.(-5583_-5518)ins18 r.(=) p.(=) Unknown - likely pathogenic g.(63550134_63550199) - RS3 allele 9 - AVPR1A_000018 ?342 allele Wassink 2004; influences expression level PubMed: Bachner-Melman 2005 - - Germline - 29/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
?/? _1 c.(-5583_-5518)ins2 r.(=) p.(=) Unknown - VUS g.(63550134_63550199) - RS3 allele 1 - AVPR1A_000010 ?326 allele Wassink 2004 (324 allele CT[4]TT[1]CT[8]GT[24]) PubMed: Bachner-Melman 2005 - - Germline - 6/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
+?/? _1 c.(-5583_-5518)ins20 r.(=) p.(=) Unknown - likely pathogenic g.(63550134_63550199) - RS3 allele 10 - AVPR1A_000019 ?344 allele Wassink 2004; influences expression level PubMed: Bachner-Melman 2005 - - Germline - 69/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
+?/? _1 c.(-5583_-5518)ins22 r.(=) p.(=) Unknown - likely pathogenic g.(63550134_63550199) - RS3 allele 11 - AVPR1A_000020 ?346 allele Wassink 2004; influences expression level PubMed: Bachner-Melman 2005 - - Germline - 24/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
+?/? _1 c.(-5583_-5518)ins24 r.(=) p.(=) Unknown - likely pathogenic g.(63550134_63550199) - RS3 allele 12 - AVPR1A_000021 ?348 allele Wassink 2004; influences expression level PubMed: Bachner-Melman 2005 - - Germline - 1/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
+?/? _1 c.(-5583_-5518)ins26 r.(=) p.(=) Unknown - likely pathogenic g.(63550134_63550199) - RS3 allele 13 - AVPR1A_000022 ?350 allele Wassink 2004; influences expression level PubMed: Bachner-Melman 2005 - - Germline - 4/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
+?/? _1 c.(-5583_-5518)ins28 r.(=) p.(=) Unknown - likely pathogenic g.(63550134_63550199) - RS3 allele 14 - AVPR1A_000023 ?352 allele Wassink 2004; influences expression level PubMed: Bachner-Melman 2005 - - Germline - 13/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
+?/? _1 c.(-5583_-5518)ins30 r.(=) p.(=) Unknown - likely pathogenic g.(63550134_63550199) - RS3 allele 15 - AVPR1A_000024 ?354 allele Wassink 2004; influences expression level PubMed: Bachner-Melman 2005 - - Germline - 1/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
+?/? _1 c.(-5583_-5518)ins32 r.(=) p.(=) Unknown - likely pathogenic g.(63550134_63550199) - RS3 allele 16 - AVPR1A_000025 ?356 allele Wassink 2004; influences expression level PubMed: Bachner-Melman 2005 - - Germline - 9/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
?/? _1 c.(-5583_-5518)ins4 r.(=) p.(=) Unknown - VUS g.(63550134_63550199) - RS3 allele 2 - AVPR1A_000011 ?328 allele Wassink 2004 PubMed: Bachner-Melman 2005 - - Germline - 59/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
?/? _1 c.(-5583_-5518)ins6 r.(=) p.(=) Unknown - VUS g.(63550134_63550199) - RS3 allele 3 - AVPR1A_000012 ?330 allele Wassink 2004 PubMed: Bachner-Melman 2005 - - Germline - 192/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
+?/? _1 c.(-5583_-5518)ins8 r.(=) p.(=) Unknown - likely pathogenic g.(63550134_63550199) - RS3 allele 4 - AVPR1A_000013 ?332 allele Wassink 2004; influences expression level PubMed: Bachner-Melman 2005 - - Germline - 491/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
?/? _1 c.-2517ATAG[8] r.(=) p.(=) Unknown - VUS g.63547098_63547133 - RS1 allele 1 - AVPR1A_000000 reference allele Variant Error [ESYNTAX]: This genomic variant has an error (char 33: end of input). Please fix this entry and then remove this message. PubMed: Bachner-Melman 2005 - - Germline - 36/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
+?/? _1 c.-2513_-2482dup r.(=) p.(=) Unknown - likely pathogenic g.(63547098_63547129dup) g.63153318_63153349dup c.-2517ATAG[16], RS1 allele 9 - AVPR1A_000009 influences expression level Variant Error [ESYNTAX]: This genomic variant has an error (char 33: expected one of ')', or a digit). Please fix this entry and then remove this message. PubMed: Bachner-Melman 2005 - - Germline - 5/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
+?/? _1 c.-2509_-2482dup r.(=) p.(=) Unknown - likely pathogenic g.(63547098_63547125dup) g.63153318_63153345dup c.-2517ATAG[15], RS1 allele 8 - AVPR1A_000008 influences expression level Variant Error [ESYNTAX]: This genomic variant has an error (char 33: expected one of ')', or a digit). Please fix this entry and then remove this message. PubMed: Bachner-Melman 2005 - - Germline - 11/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
+?/? _1 c.-2505_-2482dup r.(=) p.(=) Unknown - likely pathogenic g.(63547098_63547121dup) g.63153318_63153341dup c.-2517ATAG[14], RS1 allele 7 - AVPR1A_000007 influences expression level Variant Error [ESYNTAX]: This genomic variant has an error (char 33: expected one of ')', or a digit). Please fix this entry and then remove this message. PubMed: Bachner-Melman 2005 - - Germline - 15/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
+?/? _1 c.-2501_-2482dup r.(=) p.(=) Unknown - likely pathogenic g.(63547098_63547117dup) g.63153318_63153337dup c.-2517ATAG[13], RS1 allele 6 - AVPR1A_000006 influences expression level Variant Error [ESYNTAX]: This genomic variant has an error (char 33: expected one of ')', or a digit). Please fix this entry and then remove this message. PubMed: Bachner-Melman 2005 - - Germline - 109/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
?/? _1 c.-2497_-2482dup r.(=) p.(=) Unknown - VUS g.(63547098_63547113dup) g.63153318_63153333dup c.-2517ATAG[12], RS1 allele 5 - AVPR1A_000005 Variant Error [ESYNTAX]: This genomic variant has an error (char 33: expected one of ')', or a digit). Please fix this entry and then remove this message. PubMed: Bachner-Melman 2005 - - Germline - 149/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
?/? _1 c.-2493_-2482dup r.(=) p.(=) Unknown - VUS g.(63547098_63547109dup) g.63153318_63153329dup c.-2517ATAG[11], RS1 allele 4 - AVPR1A_000004 Variant Error [ESYNTAX]: This genomic variant has an error (char 33: expected one of ')', or a digit). Please fix this entry and then remove this message. PubMed: Bachner-Melman 2005 - - Germline - 487/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
?/? _1 c.-2489_-2482dup r.(=) p.(=) Unknown - VUS g.(63547098_63547105dup) g.63153318_63153325dup c.-2517ATAG[10], RS1 allele 3 - AVPR1A_000003 Variant Error [ESYNTAX]: This genomic variant has an error (char 33: expected one of ')', or a digit). Please fix this entry and then remove this message. PubMed: Bachner-Melman 2005 - - Germline - 644/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
?/? _1 c.-2485_-2482dup r.(=) p.(=) Unknown - VUS g.(63547098_63547101dup) g.63153318_63153321dup c.-2517ATAG[9], RS1 allele 2 - AVPR1A_000002 Variant Error [ESYNTAX]: This genomic variant has an error (char 33: expected one of ')', or a digit). Please fix this entry and then remove this message. PubMed: Bachner-Melman 2005 - - Germline - 196/1652 chromosomes - - - DNA PCR - - ? - - creative dance performance - - Israel - - - - - 826 Johan den Dunnen
-/? 1 c.408T>C r.(=) p.(=) Unknown - benign g.63544209A>G g.63150429A>G - - AVPR1A_000001 - PubMed: Wassink 2004 - rs1042615 Germline - - - - - DNA SEQ, SSCA - - Healthy/Control - - 160 nonautistic controls - - - - - - - - 160 Johan den Dunnen
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