Full data view for gene GRHPR

Information The variants shown are described using the NM_012203.1 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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     

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Age at death     

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Owner     
-?/. - c.16C>T r.(?) p.(Leu6Phe) Unknown - likely benign g.37422763C>T - GRHPR(NM_012203.2):c.16C>T (p.L6F) - GRHPR_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.84-5C>T r.spl? p.? Unknown - likely benign g.37424837C>T - GRHPR(NM_012203.2):c.84-5C>T - GRHPR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.100del r.(?) p.(Trp34Glyfs*12) Unknown - pathogenic g.37424858del - GRHPR(NM_012203.2):c.100delT (p.W34Gfs*12) - GRHPR_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.103del r.(?) p.(Asp35Thrfs*11) Unknown - VUS g.37424861del g.37424864del - - GRHPR_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.103del r.(?) p.(Asp35Thrfs*11) Unknown - pathogenic g.37424861del - GRHPR(NM_012203.2):c.103delG (p.D35Tfs*11) - GRHPR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.103del r.(?) p.(Asp35Thrfs*11) Unknown - pathogenic g.37424861del - GRHPR(NM_012203.2):c.103delG (p.D35Tfs*11) - GRHPR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.149C>T r.(?) p.(Ala50Val) Unknown - VUS g.37424907C>T - GRHPR(NM_012203.1):c.149C>T (p.A50V) - GRHPR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.181G>A r.(?) p.(Asp61Asn) Unknown - VUS g.37424939G>A g.37424942G>A - - GRHPR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.288-11C>T r.(=) p.(=) Unknown - benign g.37426524C>T g.37426527C>T GRHPR(NM_012203.2):c.288-11C>T - GRHPR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.288-11C>T r.(=) p.(=) Unknown - benign g.37426524C>T g.37426527C>T GRHPR(NM_012203.2):c.288-11C>T - GRHPR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.295C>T r.(?) p.(Arg99*) Both (homozygous) ACMG pathogenic (recessive) g.37426542C>T g.37426545C>T - - GRHPR_000013 - Abid 2022, submitted 5637 rs119490108 Germline yes - - - - DNA SEQ - - HP2 201 Abid 2022, submitted - F yes Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 4 c.295C>T r.(?) p.(Arg99Ter) Both (homozygous) ACMG pathogenic (recessive) g.37426542C>T g.37426545C>T - - GRHPR_000013 - Abid 2022, submitted - rs119490108 Germline - - - - - DNA SEQ - - HP 202 Abid 2022, submitted - F - Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 4 c.295C>T r.(?) p.(Arg99Ter) Both (homozygous) ACMG pathogenic (recessive) g.37426542C>T g.37426545C>T - - GRHPR_000013 - Abid 2022, submitted - rs119490108 Germline - - - - - DNA SEQ - - HP 210 Abid 2022, submitted - F - Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 4 c.295C>T r.(?) p.(Arg99Ter) Both (homozygous) ACMG pathogenic (recessive) g.37426542C>T g.37426545C>T - - GRHPR_000013 - Abid 2022, submitted - rs119490108 Germline - - - - - DNA SEQ - - HP 222 Abid 2022, submitted - F - Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 4 c.295C>T r.(?) p.(Arg99Ter) Both (homozygous) ACMG pathogenic (recessive) g.37426542C>T g.37426545C>T - - GRHPR_000013 - Abid 2022, submitted - rs119490108 Germline - - - - - DNA SEQ - - HP 224 Abid 2022, submitted - F - Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 4 c.295C>T r.(?) p.(Arg99Ter) Both (homozygous) ACMG pathogenic (recessive) g.37426542C>T g.37426545C>T - - GRHPR_000013 - Abid 2022, submitted - rs119490108 Germline - - - - - DNA SEQ - - HP 229 Abid 2022, submitted - F - Pakistan Pakistan - - - - 1 Aiysha Abid
+?/. - c.337G>A r.(?) p.(Glu113Lys) Parent #1 - likely pathogenic g.37426584G>A g.37426587G>A - - GRHPR_000007 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs180177307 Germline - 6/2766 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
+?/. 4 c.344C>A r.(?) p.(Ala115Glu) Both (homozygous) ACMG likely pathogenic (recessive) g.37426591C>A g.37426594C>A - - GRHPR_000014 - Abid 2022, submitted - - Germline yes - - - - DNA SEQ - - HP 213 Abid 2022, submitted - M - Pakistan Pakistan - - - - 1 Aiysha Abid
+?/. 4 c.344C>A r.(?) p.(Ala115Glu) Both (homozygous) ACMG likely pathogenic (recessive) g.37426591C>A g.37426594C>A - - GRHPR_000014 - Abid 2022, submitted - - Germline - - - - - DNA SEQ - - HP 216 Abid 2022, submitted - M - Pakistan Pakistan - - - - 1 Aiysha Abid
+?/. 4 c.349T>C r.(?) p.(Ser117Pro) Both (homozygous) ACMG likely pathogenic (recessive) g.37426596T>C g.37426599T>C - - GRHPR_000015 - Abid 2022, submitted - - Germline - - - - - DNA SEQ - - HP 221 Abid 2022, submitted - F - Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 4 c.349T>C r.(?) p.(Ser117Pro) Both (homozygous) ACMG pathogenic (recessive) g.37426596T>C g.37426599T>C - - GRHPR_000015 - Abid 2022, submitted - - Germline yes - - - - DNA SEQ - - HP 230 Abid 2022, submitted - M - Pakistan Pakistan - - - - 1 Aiysha Abid
+?/. 4 c.349T>C r.(?) p.(Ser117Pro) Both (homozygous) ACMG likely pathogenic (recessive) g.37426596T>C g.37426599T>C - - GRHPR_000015 - Abid 2022, submitted - - Germline - - - - - DNA SEQ - - HP 233 Abid 2022, submitted - F - Pakistan Pakistan - - - - 1 Aiysha Abid
+?/. 4 c.370C>T r.(?) p.(Arg124Cys) Both (homozygous) ACMG likely pathogenic (recessive) g.37426617C>T g.37426620C>T - - GRHPR_000016 - Abid 2022, submitted - rs372712521 Germline - - - - - DNA SEQ - - HP 215 Abid 2022, submitted - M - Pakistan Pakistan - - - - 1 Aiysha Abid
+?/. 4 c.370C>T r.(?) p.(Arg124Cys) Both (homozygous) ACMG likely pathogenic (recessive) g.37426617C>T g.37426620C>T - - GRHPR_000016 - Abid 2022, submitted - rs372712521 Germline - - - - - DNA SEQ - - HP 218 Abid 2022, submitted - M - Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 4i c.404+3_404+6del r.spl? p.? Both (homozygous) ACMG pathogenic (recessive) g.37426654_37426657del g.37426657_37426660del 404+3_404+6delAAGT - GRHPR_000017 - Abid 2022, submitted - rs180177309 Germline - - - - - DNA SEQ - - HP 206 Abid 2022, submitted - F - Pakistan Pakistan - - - - 1 Aiysha Abid
+?/. 5 c.412T>C r.(?) p.(Trp138Arg) Both (homozygous) ACMG likely pathogenic (recessive) g.37428488T>C g.37428491T>C - - GRHPR_000018 - Abid 2022, submitted - rs746364242 Germline - - - - - DNA SEQ - - HP 205 Abid 2022, submitted - M - Pakistan Pakistan - - - - 1 Aiysha Abid
+?/. 5 c.412T>C r.(?) p.(Trp138Arg) Both (homozygous) ACMG likely pathogenic (recessive) g.37428488T>C g.37428491T>C - - GRHPR_000018 - Abid 2022, submitted - rs746364242 Germline yes - - - - DNA SEQ - - HP 211 Abid 2022, submitted - M - Pakistan Pakistan - - - - 1 Aiysha Abid
+?/. 5 c.412T>C r.(?) p.(Trp138Arg) Both (homozygous) ACMG likely pathogenic (recessive) g.37428488T>C g.37428491T>C - - GRHPR_000018 - Abid 2022, submitted - rs746364242 Germline - - - - - DNA SEQ - - HP 212 Abid 2022, submitted - F - Pakistan Pakistan - - - - 1 Aiysha Abid
+?/. 5 c.412T>C r.(?) p.(Trp138Arg) Both (homozygous) ACMG likely pathogenic (recessive) g.37428488T>C g.37428491T>C - - GRHPR_000018 - Abid 2022, submitted - rs746364242 Germline - - - - - DNA SEQ - - HP 217 Abid 2022, submitted - F - Pakistan Pakistan - - - - 1 Aiysha Abid
+?/. 5 c.412T>C r.(?) p.(Trp138Arg) Both (homozygous) ACMG likely pathogenic (recessive) g.37428488T>C g.37428491T>C - - GRHPR_000018 - Abid 2022, submitted - rs746364242 Germline - - - - - DNA SEQ - - HP 225 Abid 2022, submitted - M - Pakistan Pakistan - - - - 1 Aiysha Abid
-?/. - c.456G>A r.(?) p.(=) Unknown - likely benign g.37428532G>A - GRHPR(NM_012203.2):c.456G>A (p.T152=) - GRHPR_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.494-68A>G r.(=) p.(=) Unknown - benign g.37429661A>G g.37429664A>G GRHPR(NM_012203.2):c.494-68A>G - GRHPR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.494G>A r.(?) p.(Gly165Asp) Both (homozygous) ACMG pathogenic (recessive) g.37429729G>A g.37429732G>A - - GRHPR_000019 - Abid 2022, submitted - rs180177314 Germline yes - - - - DNA SEQ - - HP 207 Abid 2022, submitted - F - Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 6 c.494G>A r.(?) p.(Gly165Asp) Both (homozygous) ACMG pathogenic (recessive) g.37429729G>A g.37429732G>A - - GRHPR_000019 - Abid 2022, submitted - rs180177315 Germline - - - - - DNA SEQ - - HP 208 Abid 2022, submitted - M - Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 6 c.494G>A r.(?) p.(Gly165Asp) Both (homozygous) ACMG pathogenic (recessive) g.37429729G>A g.37429732G>A - - GRHPR_000019 - Abid 2022, submitted - rs180177314 Germline - - - - - DNA SEQ - - HP 214 Abid 2022, submitted - F - Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 6 c.494G>A r.(?) p.(Gly165Asp) Both (homozygous) ACMG pathogenic (recessive) g.37429729G>A g.37429732G>A - - GRHPR_000019 - Abid 2022, submitted - rs180177314 Germline - - - - - DNA SEQ - - HP 219 Abid 2022, submitted - M - Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 6 c.494G>A r.(?) p.(Gly165Asp) Both (homozygous) ACMG pathogenic (recessive) g.37429729G>A g.37429732G>A - - GRHPR_000019 - Abid 2022, submitted - rs180177314 Germline - - - - - DNA SEQ - - HP 226 Abid 2022, submitted - M - Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 6 c.494G>A r.(?) p.(Gly165Asp) Both (homozygous) ACMG pathogenic (recessive) g.37429729G>A g.37429732G>A - - GRHPR_000019 - Abid 2022, submitted - rs180177314 Germline - - - - - DNA SEQ - - HP 227 Abid 2022, submitted - M - Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 6 c.494G>A r.(?) p.(Gly165Asp) Both (homozygous) ACMG pathogenic (recessive) g.37429729G>A g.37429732G>A - - GRHPR_000019 - Abid 2022, submitted - rs180177314 Germline - - - - - DNA SEQ - - HP 231 Abid 2022, submitted - M - Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 7 c.494G>A r.(?) p.(Gly165Asp) Both (homozygous) ACMG pathogenic (recessive) g.37429729G>A g.37429732G>A - - GRHPR_000019 - Abid 2022, submitted - rs180177315 Germline - - - - - DNA SEQ - - HP 232 Abid 2022, submitted - F - Pakistan Pakistan - - - - 1 Aiysha Abid
+/. - c.494G>A r.(?) p.(Gly165Asp) Unknown - pathogenic g.37429729G>A - - - GRHPR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.509G>A r.(?) p.(Arg170Gln) Unknown - likely benign g.37429744G>A - GRHPR(NM_012203.2):c.509G>A (p.R170Q) - GRHPR_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.512G>A r.(?) p.(Arg171His) Parent #1 - VUS g.37429747G>A g.37429750G>A - - GRHPR_000008 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200106110 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
-/. - c.579A>G r.(?) p.(Ala193=) Unknown - benign g.37429814A>G g.37429817A>G GRHPR(NM_012203.2):c.579A>G (p.A193=) - GRHPR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.579A>G r.(?) p.(Ala193=) Unknown - benign g.37429814A>G g.37429817A>G GRHPR(NM_012203.2):c.579A>G (p.A193=) - GRHPR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.579A>G r.(?) p.(Ala193=) Both (homozygous) - benign g.37429814A>G g.37429817A>G - - GRHPR_000005 - PubMed: Koroglu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ALS 29086072-FamPat504 PubMed: Koroglu 2017 Pat504 M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.626C>T r.(?) p.(Ser209Phe) Unknown - pathogenic g.37430535C>T - GRHPR(NM_012203.2):c.626C>T (p.S209F) - GRHPR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.808G>A r.(?) p.(Val270Met) Both (homozygous) ACMG likely pathogenic (recessive) g.37432078G>A g.37432081G>A - - GRHPR_000020 - Abid 2022, submitted - rs765478360 Germline - - - - - DNA SEQ - - HP 228 Abid 2022, submitted - M - Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 9 c.865G>A r.(?) p.(Val289Met) Both (homozygous) ACMG pathogenic (recessive) g.37432135G>A g.37432138G>A - - GRHPR_000021 - Abid 2022, submitted - - Germline - - - - - DNA SEQ - - HP 203 Abid 2022, submitted - M - Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 9 c.865G>A r.(?) p.(Val289Met) Both (homozygous) ACMG pathogenic (recessive) g.37432135G>A g.37432138G>A - - GRHPR_000021 - Abid 2022, submitted - - Germline - - - - - DNA SEQ - - HP 204 Abid 2022, submitted - F - Pakistan Pakistan - - - - 1 Aiysha Abid
-?/. - c.866-14_866-9del r.(=) p.(=) Unknown - likely benign g.37436644_37436649del - GRHPR(NM_012203.2):c.866-14_866-9delTCTCTC - GRHPR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.866-10_866-9dup r.(=) p.(=) Unknown - benign g.37436648_37436649dup - GRHPR(NM_012203.2):c.866-11_866-10dupCT - GRHPR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.905G>A r.(?) p.(Arg302His) Unknown - VUS g.37436697G>A - GRHPR(NM_012203.1):c.905G>A (p.R302H) - GRHPR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.932dup r.(?) p.(Asn311LysfsTer14) Both (homozygous) ACMG pathogenic (recessive) g.37436724dup g.37436727dup - - GRHPR_000022 - Abid 2022, submitted - - Germline - - - - - DNA SEQ - - HP 209 Abid 2022, submitted - M - Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 9 c.932dup r.(?) p.(Asn311LysfsTer14) Both (homozygous) ACMG pathogenic (recessive) g.37436724dup g.37436727dup - - GRHPR_000022 - Abid 2022, submitted - - Germline - - - - - DNA SEQ - - HP 220 Abid 2022, submitted - M - Pakistan Pakistan - - - - 1 Aiysha Abid
+/. 9 c.932dup r.(?) p.(Asn311LysfsTer14) Both (homozygous) ACMG pathogenic (recessive) g.37436724dup g.37436727dup - - GRHPR_000022 - Abid 2022, submitted - - Germline - - - - - DNA SEQ - - HP 223 Abid 2022, submitted - F - Pakistan Pakistan - - - - 1 Aiysha Abid
-/. - c.963G>A r.(?) p.(Pro321=) Unknown - benign g.37436755G>A g.37436758G>A GRHPR(NM_012203.2):c.963G>A (p.P321=) - GRHPR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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