Unique variants in the GRPR gene

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

13 entries on 1 page. Showing entries 1 - 13.
Legend   How to query  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.16T>C r.(?) p.(Cys6Arg) - 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 - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.242G>A r.(?) p.(Ser81Asn) - benign, likely 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.355A>G r.(?) p.(Ile119Val) - VUS g.16142431A>G - GRPR(NM_005314.2):c.355A>G (p.I119V) - GRPR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.396G>A r.(=) p.(=) - likely benign g.16142472G>A g.16124349G>A T132T - GRPR_000009 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - Lucy Raymond
-/., -?/. 2 - c.453T>C r.(=), r.(?) p.(=), p.(Ser151=) - benign, likely benign g.16168467T>C g.16150344T>C GRPR(NM_005314.2):c.453T>C (p.S151=), S151S - GRPR_000005 recurrent, found 37 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 37/208 cases - - - Lucy Raymond, VKGL-NL_Groningen
?/. 1 - c.541C>T r.(?) p.(Leu181Phe) - 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 - - - - - VKGL-NL_Leiden
-/., -?/. 2 - c.663T>C r.(=), r.(?) p.(=), p.(Ile221=) - benign, likely benign g.16168677T>C g.16150554T>C GRPR(NM_005314.2):c.663T>C (p.I221=), I221I - GRPR_000007 recurrent, found 49 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 49/208 cases - - - Lucy Raymond, VKGL-NL_Groningen
?/. 1 - c.691T>C r.(?) p.(Tyr231His) - VUS g.16168705T>C g.16150582T>C - - GRPR_000010 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.720T>C r.(=) p.(=) - likely benign g.16168734T>C g.16150611T>C S240S - GRPR_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.903T>C r.(?) p.(Phe301=) - likely benign g.16170516T>C - GRPR(NM_005314.2):c.903T>C (p.F301=) - GRPR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1000A>G r.(?) p.(Asn334Asp) - 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 - - - - - VKGL-NL_Rotterdam
?/. 2 - c.*826del r.(=) p.(=) - VUS g.16171594del g.16153471del - - GRPR_000003 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*836del r.(=) p.(=) - VUS g.16171604del g.16153481del - - GRPR_000001 - - - - Germline - - - - - Yu Sun
Legend   How to query