Full data view for gene GRPR

Information The variants shown are described using the NM_005314.2 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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     
?/. - c.16T>C r.(?) p.(Cys6Arg) Unknown - VUS g.16142092T>C g.16123969T>C GRPR(NM_005314.2):c.16T>C (p.C6R) - GRPR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.242G>A r.(?) p.(Ser81Asn) Unknown - benign g.16142318G>A g.16124195G>A GRPR(NM_005314.2):c.242G>A (p.S81N) - GRPR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.242G>A r.(?) p.(Ser81Asn) Unknown - likely benign g.16142318G>A - GRPR(NM_005314.2):c.242G>A (p.S81N) - GRPR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.355A>G r.(?) p.(Ile119Val) Unknown - VUS g.16142431A>G - GRPR(NM_005314.2):c.355A>G (p.I119V) - GRPR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.396G>A r.(=) p.(=) Parent #1 - likely benign g.16142472G>A g.16124349G>A T132T - GRPR_000009 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Lucy Raymond
-/. - c.453T>C r.(?) p.(Ser151=) Unknown - benign g.16168467T>C g.16150344T>C GRPR(NM_005314.2):c.453T>C (p.S151=) - GRPR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.453T>C r.(=) p.(=) Parent #1 - likely benign g.16168467T>C g.16150344T>C S151S - GRPR_000005 recurrent, found 37 times PubMed: Tarpey 2009 - - Germline - 37/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 37 Lucy Raymond
?/. - c.541C>T r.(?) p.(Leu181Phe) Unknown - VUS g.16168555C>T g.16150432C>T GRPR(NM_005314.2):c.541C>T (p.(Leu181Phe)) - GRPR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.663T>C r.(?) p.(Ile221=) Unknown - benign g.16168677T>C g.16150554T>C GRPR(NM_005314.2):c.663T>C (p.I221=) - GRPR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.663T>C r.(=) p.(=) Parent #1 - likely benign g.16168677T>C g.16150554T>C I221I - GRPR_000007 recurrent, found 49 times PubMed: Tarpey 2009 - - Germline - 49/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 49 Lucy Raymond
?/. - c.691T>C r.(?) p.(Tyr231His) Parent #1 - VUS g.16168705T>C g.16150582T>C - - GRPR_000010 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.720T>C r.(=) p.(=) Parent #1 - likely benign g.16168734T>C g.16150611T>C S240S - GRPR_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.903T>C r.(?) p.(Phe301=) Unknown - likely benign g.16170516T>C - GRPR(NM_005314.2):c.903T>C (p.F301=) - GRPR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1000A>G r.(?) p.(Asn334Asp) Unknown - VUS g.16170613A>G g.16152490A>G GRPR(NM_005314.2):c.1000A>G (p.N334D) - GRPR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*826del r.(=) p.(=) Maternal (inferred) - VUS g.16171594del g.16153471del - - GRPR_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*826del r.(=) p.(=) Maternal (inferred) - VUS g.16171594del g.16153471del - - GRPR_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*836del r.(=) p.(=) Maternal (inferred) - VUS g.16171604del g.16153481del - - GRPR_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*836del r.(=) p.(=) Maternal (inferred) - VUS g.16171604del g.16153481del - - GRPR_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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