Full data view for gene RIN2

Information The variants shown are described using the NM_001242581.1 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
Legend  

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     
-/. - c.232G>A r.(?) p.(Gly78Arg) Parent #1 - - g.19915770G>A g.19935126G>A - - RIN2_000004 8 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs78648341 Germline - 8/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 8 Mohammed Faruq
-?/. - c.494C>T r.(?) p.(Pro165Leu) Parent #1 - - g.19937447C>T g.19956803C>T - - RIN2_000029 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs147968123 Germline - 1/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-/. - c.736T>A r.(?) p.(Ser246Thr) Unknown - benign g.19951534T>A - RIN2(NM_001242581.1):c.736T>A (p.S246T) - RIN2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.736T>A r.(?) p.(Ser246Thr) Unknown - benign g.19951534T>A - RIN2(NM_001242581.1):c.736T>A (p.S246T) - RIN2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.775+7G>A r.(=) p.(=) Unknown - likely benign g.19951580G>A - RIN2(NM_001242581.1):c.775+7G>A - RIN2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.951C>T r.(?) p.(=) Unknown - benign g.19955473C>T - RIN2(NM_001242581.1):c.951C>T (p.A317=) - RIN2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.951C>T r.(=) p.(=) Parent #1 - - g.19955473C>T g.19974829C>T - - RIN2_000006 5 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs41306763 Germline - 5/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 5 Mohammed Faruq
-?/. - c.1037A>T r.(?) p.(Asn346Ile) Unknown - likely benign g.19955559A>T - RIN2(NM_001242581.1):c.1037A>T (p.(Asn346Ile)) - RIN2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1063_1064insG r.(?) p.(Ser355Cysfs*12) Unknown - likely benign g.19955585_19955586insG - RIN2(NM_001242581.1):c.1063_1064insG (p.(Ser355CysfsTer12)) - RIN2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1063_1064insGC r.(?) p.(Ser355Cysfs*42) Unknown - likely benign g.19955585_19955586insGC - RIN2(NM_001242581.1):c.1063_1064insGC (p.(Ser355CysfsTer42)) - RIN2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1063_1064insGCC r.(?) p.(Ser355delinsCysPro) Unknown - likely benign g.19955585_19955586insGCC - RIN2(NM_001242581.1):c.1063_1064insGCC (p.(Ser355delinsCysPro)) - RIN2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1075_1076del r.(?) p.(Arg359Alafs*7) Unknown - likely benign g.19955597_19955598del - RIN2(NM_001242581.1):c.1075_1076del (p.(Arg359AlafsTer7)) - RIN2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1075_1077del r.(?) p.(Arg359del) Unknown - likely benign g.19955597_19955599del - RIN2(NM_001242581.1):c.1075_1077del (p.(Arg359del)) - RIN2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1076G>C r.(?) p.(Arg359Thr) Unknown - likely benign g.19955598G>C - RIN2(NM_001242581.1):c.1076G>C (p.(Arg359Thr)) - RIN2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1077G>C r.(?) p.(Arg359Ser) Unknown - likely benign g.19955599G>C - RIN2(NM_001242581.1):c.1077G>C (p.(Arg359Ser)) - RIN2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1083G>C r.(?) p.(=) Unknown - benign g.19955605G>C - RIN2(NM_001242581.1):c.1083G>C (p.P361=) - RIN2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1086A>C r.(?) p.(=) Unknown - likely benign g.19955608A>C - RIN2(NM_001242581.1):c.1086A>C (p.P362=) - RIN2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1090G>C r.(?) p.(Ala364Pro) Unknown - likely benign g.19955612G>C - RIN2(NM_001242581.1):c.1090G>C (p.(Ala364Pro)) - RIN2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1092T>C r.(?) p.(=) Unknown - benign g.19955614T>C - RIN2(NM_001242581.1):c.1092T>C (p.A364=) - RIN2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1191G>C r.(?) p.(=) Unknown - benign g.19955713G>C - RIN2(NM_001242581.1):c.1191G>C (p.L397=) - RIN2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1562C>G r.(?) p.(Thr521Ser) Unknown - likely benign g.19956084C>G - RIN2(NM_001242581.1):c.1562C>G (p.(Thr521Ser)) - RIN2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1789G>A r.(?) p.(Val597Met) Parent #1 - - g.19956311G>A g.19975667G>A - - RIN2_000018 28 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs181298473 Germline - 28/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 28 Mohammed Faruq
-/. - c.1965C>T r.(?) p.(=) Unknown - benign g.19970705C>T - RIN2(NM_001242581.1):c.1965C>T (p.H655=) - RIN2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1965C>T r.(?) p.(=) Unknown - benign g.19970705C>T - RIN2(NM_001242581.1):c.1965C>T (p.H655=) - RIN2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2085del r.(?) p.(Asp696Ilefs*13) Both (homozygous) - pathogenic (recessive) g.19970825del - NM_018993.3:c.1938delT - RIN2_000003 - PubMed: Shaukat 2019 - - Germline yes - - 0 - DNA SEQ-NG - - ? FamPatIII2 PubMed: Shaukat 2019 3-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives heterozygous carriers M yes Pakistan Asian - 0 - - 5 Sadaf Naz
+?/. - c.2085del r.(?) p.(Asp696Ilefs*13) Parent #1 - pathogenic (recessive) g.19970825del - - - RIN2_000003 - PubMed: Shaukat 2019 - - Germline - - - 0 - DNA SEQ - - BBS FamPatIII1 PubMed: Shaukat 2019 - F yes Pakistan - - 0 - - 1 Sadaf Naz
+?/. - c.2085del r.(?) p.(Asp696Ilefs*13) Parent #1 - pathogenic (recessive) g.19970825del - - - RIN2_000003 - PubMed: Shaukat 2019 - - Germline - - - 0 - DNA SEQ - - BBS FamPatIII3 PubMed: Shaukat 2019 - M yes Pakistan - - 0 - - 1 Sadaf Naz
+?/. - c.2085del r.(?) p.(Asp696Ilefs*13) Both (homozygous) - pathogenic (recessive) g.19970825del - - - RIN2_000003 - PubMed: Shaukat 2019 - - Germline yes - - 0 - DNA SEQ - - MACS FamPatIII4 PubMed: Shaukat 2019 - F yes Pakistan - - 0 - - 1 Sadaf Naz
+?/. - c.2085del r.(?) p.(Asp696Ilefs*13) Both (homozygous) - pathogenic (recessive) g.19970825del - - - RIN2_000003 - PubMed: Shaukat 2019 - - Germline - - - 0 - DNA SEQ - - MACS FamPatIII5 PubMed: Shaukat 2019 - - yes Pakistan - - 0 - - 1 Sadaf Naz
-?/. - c.2113G>A r.(?) p.(Val705Ile) Unknown - likely benign g.19970853G>A - RIN2(NM_001242581.1):c.2113G>A (p.V705I) - RIN2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2113G>A r.(?) p.(Val705Ile) Unknown - likely benign g.19970853G>A - RIN2(NM_001242581.1):c.2113G>A (p.V705I) - RIN2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2148G>A r.(?) p.(=) Unknown - benign g.19970888G>A - RIN2(NM_001242581.1):c.2148G>A (p.P716=) - RIN2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2648A>T r.(?) p.(Tyr883Phe) Unknown - VUS g.19981393A>T - RIN2(NM_001242581.1):c.2648A>T (p.Y883F) - RIN2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend