Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


28 records found for search term Phpt1
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
598249901CV3996807single nucleotide variantNM_014172.6(PHPT1):c.5C>T (p.Ala2Val)not specified [RCV005384528]uncertain significance9136849435136849435Humanname
15166835CV723477single nucleotide variantNM_014172.6(PHPT1):c.8T>C (p.Val3Ala)not provided [RCV000882719]benign9136849438136849438Humanname
156333191CV2335945single nucleotide variantNM_014172.6(PHPT1):c.13G>A (p.Asp5Asn)not specified [RCV004189555]uncertain significance9136849443136849443Humanname
401930797CV2823626single nucleotide variantNM_014172.6(PHPT1):c.195G>A (p.Gln65=)not provided [RCV003440769]likely benign9136850047136850047Humanname
156242975CV2262203single nucleotide variantNM_014172.6(PHPT1):c.60C>G (p.Phe20Leu)not specified [RCV004126632]uncertain significance9136849490136849490Humanname
329392058CV2445270single nucleotide variantNM_014172.6(PHPT1):c.35T>C (p.Val12Ala)not specified [RCV004263899]uncertain significance9136849465136849465Humanname
407511508CV3467224single nucleotide variantNM_014172.6(PHPT1):c.75C>G (p.Ile25Met)not specified [RCV004648073]uncertain significance9136849505136849505Humanname
598249886CV3996805single nucleotide variantNM_014172.6(PHPT1):c.306C>T (p.His102=)not specified [RCV005384526]likely benign9136850775136850775Humanname
156122819CV2227169single nucleotide variantNM_014172.6(PHPT1):c.280T>A (p.Ser94Thr)not specified [RCV004091778]uncertain significance9136850132136850132Humanname
156122841CV2227170single nucleotide variantNM_014172.6(PHPT1):c.281C>A (p.Ser94Tyr)not specified [RCV004091779]uncertain significance9136850133136850133Humanname
155910995CV2303725single nucleotide variantNM_014172.6(PHPT1):c.134G>A (p.Arg45His)not specified [RCV004161790]uncertain significance9136849564136849564Humanname
156358234CV2318448single nucleotide variantNM_014172.6(PHPT1):c.251A>G (p.Gln84Arg)not specified [RCV004179600]uncertain significance9136850103136850103Humanname
156157457CV2322572single nucleotide variantNM_014172.6(PHPT1):c.290A>G (p.Tyr97Cys)not specified [RCV004182726]uncertain significance9136850759136850759Humanname
405765342CV3375606single nucleotide variantNM_014172.6(PHPT1):c.229G>A (p.Gly77Arg)not specified [RCV004501328]uncertain significance9136850081136850081Humanname
407511511CV3467225single nucleotide variantNM_014172.6(PHPT1):c.172G>C (p.Asp58His)not specified [RCV004648074]uncertain significance9136850024136850024Humanname
407511514CV3467226single nucleotide variantNM_014172.6(PHPT1):c.219T>G (p.Cys73Trp)not specified [RCV004648075]uncertain significance9136850071136850071Humanname
597767113CV3569217single nucleotide variantNM_014172.6(PHPT1):c.237C>G (p.Ile79Met)not specified [RCV004850402]uncertain significance9136850089136850089Humanname
598249893CV3996806single nucleotide variantNM_014172.6(PHPT1):c.296C>T (p.Pro99Leu)not specified [RCV005384527]uncertain significance9136850765136850765Humanname
598249909CV3996808single nucleotide variantNM_014172.6(PHPT1):c.243C>A (p.His81Gln)not specified [RCV005384529]uncertain significance9136850095136850095Humanname
598197469CV3996809single nucleotide variantNM_014172.6(PHPT1):c.107C>T (p.Pro36Leu)not specified [RCV005397875]uncertain significance9136849537136849537Humanname
598249917CV3996810single nucleotide variantNM_014172.6(PHPT1):c.260A>T (p.Lys87Met)not specified [RCV005384530]uncertain significance9136850112136850112Humanname
15097673CV700904single nucleotide variantNM_014172.6(PHPT1):c.117G>C (p.Glu39Asp)not provided [RCV000958368]likely benign9136849547136849547Humanname
156326794CV2219686single nucleotide variantNM_014172.6(PHPT1):c.367G>A (p.Asp123Asn)not specified [RCV004095401]uncertain significance9136850836136850836Humanname
156169788CV2315480single nucleotide variantNM_014172.6(PHPT1):c.340C>T (p.Pro114Ser)not specified [RCV004167427]uncertain significance9136850809136850809Humanname
401741455CV2681324single nucleotide variantNM_014172.6(PHPT1):c.316A>G (p.Thr106Ala)not specified [RCV004289446]uncertain significance9136850785136850785Humanname
401774002CV2702531single nucleotide variantNM_014172.6(PHPT1):c.307G>T (p.Ala103Ser)not specified [RCV004317026]likely benign9136850776136850776Humanname
405765353CV3375608single nucleotide variantNM_014172.6(PHPT1):c.313T>G (p.Ser105Ala)not specified [RCV004501330]uncertain significance9136850782136850782Humanname
598249925CV3996811single nucleotide variantNM_014172.6(PHPT1):c.351G>C (p.Glu117Asp)not specified [RCV005384531]uncertain significance9136850820136850820Humanname