rs1655433446 Rat Genome Database

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Variant: rs1655433446 -  Homo sapiens

RGD ID: 26897092
RS ID: rs1655433446
ClinVar ID: CV822683
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VPS45  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 150,049,175
GRCh38 1 150,077,097
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1170:g.14805C>T
NG_033910.1:g.14805C>T
NC_000001.11:g.150077097C>T
NC_000001.10:g.150049175C>T
More... 		12/23/2019 intron variant uncertain significance Severe congenital neutropenia 5, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:VPS45
Accession:NM_007259
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNVVFAVKQYISKMIEDSGPGMKVLLMDKETTGIVSMVYTQSEILQKEVYLFERIDSQNREIMKHLKAICFLRPTKENVD
YIIQELRRPKYTIYFIYFSNVISKSDVKSLAEADEQEVVAEVQEFYGDYIAVNPHLFSLNILGCCQG*NWDPAQLSRTTQ
GLTALLLSLKKCPMIRYQLSSEAAKRLAECVKQVITKEYELFEFRRTEVPPLLLILDRCDDAITPLLNQWTYQAMVHELL
GINNNRIDLSRVPGISKDLREVVLSAENDEFYANNMYLNFAEIGSNIKNLMEDFQKKKPKEQQKLESIADMKAFVENYPQ
FKKMSGTVSKHVTVVGELSRLVSERNLLEVSEVEQELACQNDHSSALQNIKRLLQNPKVTEFDAARLVMLYALHYERHSS
NSLPGLMMDLRNKGVSEKYRKLVSAVVEYGGKRVRGSDLFSPKDAVAITKQFLKGLKGVENVYTQHQPFLHETLDHLIKG
RLKENLYPYLGPSTLRDRPQDIIVFVIGGATYEEALTVYNLNRTTPGVRIVLGGTTVHNTKSFLEEVLASGLHSRSKESS
QVTSRSASRR*

Gene Symbol:VPS45
Accession:NM_001279354
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVYTQSEILQKEVYLFERIDSQNREIMKHLKAICFLRPTKENVDYIIQELRRPKYTIYFIYFSNVISKSDVKSLAEADEQ
EVVAEVQEFYGDYIAVNPHLFSLNILGCCQG*NWDPAQLSRTTQGLTALLLSLKKCPMIRYQLSSEAAKRLAECVKQVIT
KEYELFEFRRTEVPPLLLILDRCDDAITPLLNQWTYQAMVHELLGINNNRIDLSRVPGISKDLREVVLSAENDEFYANNM
YLNFAEIGSNIKNLMEDFQKKKPKEQQKLESIADMKAFVENYPQFKKMSGTVSKHVTVVGELSRLVSERNLLEVSEVEQE
LACQNDHSSALQNIKRLLQNPKVTEFDAARLVMLYALHYERHSSNSLPGLMMDLRNKGVSEKYRKLVSAVVEYGGKRVRG
SDLFSPKDAVAITKQFLKGLKGVENVYTQHQPFLHETLDHLIKGRLKENLYPYLGPSTLRDRPQDIIVFVIGGATYEEAL
TVYNLNRTTPGVRIVLGGTTVHNTKSFLEEVLASGLHSRSKESSQVTSRSASRR*

Gene Symbol:VPS45
Accession:XM_024452791
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVYTQSEILQKEVYLFERIDSQNREIMKHLKAICFLRPTKENVDYIIQELRRPKYTIYFIYFSNVISKSDVKSLAEADEQ
EVVAEVQEFYGDYIAVNPHLFSLNILGCCQG*NWDPAQLSRTTQGLTALLLSLKKCPMIRYQLSSEAAKRLAECVKQVIT
KEYELFEFRRTEVPPLLLILDRCDDAITPLLNQWTYQAMVHELLGINNNRIDLSRVPGISKDLREVVLSAENDEFYANNM
YLNFAEIGSNIKNLMEDFQKKKPKEQQKLESIADMKAFVENYPQFKKMSGTVSKHVTVVGELSRLVSERNLLEVSEVEQE
LACQNDHSSALQNIKRLLQNPKVTEFDAARLVMLYALHYERHSSNSLPGLMMDLRNKGVSEKYRKLVSAVVEYGGKRVRG
SDLFSPKDAVAITKQFLKGLKGVENVYTQHQPFLHETLDHLIKGRLKENLYPYLGPSTLRDRPQDIIVFVIGGATYEEAL
TVYNLNRTTPGVRIVLGGTTVHNTKSFLEEVLASGLHSRSKESSQVTSRSASRR*

Gene Symbol:VPS45
Accession:XR_921734
Location:EXON;NON-CODING

Gene Symbol:VPS45
Accession:XR_007069452
Location:EXON;NON-CODING

Gene Symbol:VPS45
Accession:NM_001279353
Location:INTRON

Gene Symbol:VPS45
Accession:NR_103998
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001070142 CLINVAR
dbSNP (RS) rs1655433446 CLINVAR
MedGen C3809031 CLINVAR
NCBI Gene VPS45 CLINVAR
OMIM 610035 CLINVAR
  615285 CLINVAR