RGD:11609736 Rat Genome Database

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Variant: RGD:11609736 -  Homo sapiens

RGD ID: 11609736
RS ID: rs145865648
ClinVar ID: CV316300
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C10orf55  LOC126860960  PLAU  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 75,673,417
GRCh38 10 73,913,659
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_593:g.7556C>T
NG_011904.1:g.7556C>T
NC_000010.11:g.73913659C>T
NC_000010.10:g.75673417C>T
More... 		01/12/2018 missense variant benign|likely benign 1-9 / 1 000 000 BLEEDING DISORDER, PLATELET-TYPE, 5; Factor V Quebec
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PLAU
Accession:NM_002658
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 194
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRALLARLLLCVLVVSDSKGSNELHQVPSNCDCLNGGTCVSNKYFSNIHWCNCPKKFGGQHCEIDKSKTCYEGNGHFYRG
KASTDTMGRPCLPWNSATVLQQTYHAHRSDALQLGLGKHNYCRNPDNRRRPWCYVQVGLKLLVQECMVHDCADGKKPSSP
PEELKFQCGQKTLRPRFKIIGGEFTTIENQPWFVAIYRRHRGGSVTYVCGGSLISPCWVISATHCFIDYPKKEDYIVYLG
RSRLNSNTQGEMKFEVENLILHKDYSADTLAHHNDIALLKIRSKEGRCAQPSRTIQTICLPSMYNDPQFGTSCEITGFGK
ENSTDYLYPEQLKMTVVKLISHRECQQPHYYGSEVTTKMLCAADPQWKTDSCQGDSGGPLVCSLQGRMTLTGIVSWGRGC
ALKDKPGVYTRVSHFLPWIRSHTKEENGLAL*

Gene Symbol:PLAU
Accession:NM_001145031
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVFHLRTRYEQANCDCLNGGTCVSNKYFSNIHWCNCPKKFGGQHCEIDKSKTCYEGNGHFYRGKASTDTMGRPCLPWNSA
TVLQQTYHAHRSDALQLGLGKHNYCRNPDNRRRPWCYVQVGLKLLVQECMVHDCADGKKPSSPPEELKFQCGQKTLRPRF
KIIGGEFTTIENQPWFVAIYRRHRGGSVTYVCGGSLISPCWVISATHCFIDYPKKEDYIVYLGRSRLNSNTQGEMKFEVE
NLILHKDYSADTLAHHNDIALLKIRSKEGRCAQPSRTIQTICLPSMYNDPQFGTSCEITGFGKENSTDYLYPEQLKMTVV
KLISHRECQQPHYYGSEVTTKMLCAADPQWKTDSCQGDSGGPLVCSLQGRMTLTGIVSWGRGCALKDKPGVYTRVSHFLP
WIRSHTKEENGLAL*

Gene Symbol:PLAU
Accession:XM_011539866
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 194
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRALLARLLLCVLVVSDSKGSNELHQVPSNCDCLNGGTCVSNKYFSNIHWCNCPKKFGGQHCEIDKSKTCYEGNGHFYRG
KASTDTMGRPCLPWNSATVLQQTYHAHRSDALQLGLGKHNYCRNPDNRRRPWCYVQVGLKLLVQECMVHDCADGKKPSSP
PEELKFQCGQKTLRPRFKIIGGEFTTIENQPWFVAIYRRHRGGSVTYVCGGSLISPCWVISATHCFIDYPKKEDYIVYLG
RSRLNSNTQGEMKFEVENLILHKDYSADTLAHHNDIALLKIRSKEGRCAQPSRTIQTICLPSMYNDPQFGTSCEITGFGK
ENSTDYLYPEQLKMTVVKLISHRECQQPHYYGSEVTTKMLCAADPQWKTDSCQGDSGGPLVCSLQGRMTLTGIVSWGRGC
ALKDKPGVYTRVSHFLPWIRSHTKEENGLAL*

Gene Symbol:PLAU
Accession:XM_047425353
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 194
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRALLARLLLCVLVVSDSKGSNELHQVPSNCDCLNGGTCVSNKYFSNIHWCNCPKKFGGQHCEIDKSKTCYEGNGHFYRG
KASTDTMGRPCLPWNSATVLQQTYHAHRSDALQLGLGKHNYCRNPDNRRRPWCYVQVGLKLLVQECMVHDCADGKKPSSP
PEELKFQCGQKTLRPRFKIIGGEFTTIENQPWFVAIYRRHRGGSVTYVCGGSLISPCWVISATHCFIDYPKKEDYIVYLG
RSRLNSNTQGEMKFEVENLILHKDYSADTLAHHNDIALLKIRSKEGRCAQPSRTIQTICLPSMYNDPQFGTSCEITGFGK
ENSTDYLYPEQLKMTVVKLISHRECQQPHYYGSEVTTKMLCAADPQWKTDSCQGDSGGPLVCSLQGRMTLTGIVSWGRGC
ALKDKPGVYTRVSHFLPWIRSHTKEENGLAL*

Gene Symbol:PLAU
Accession:NM_001319191
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRPCLPWNSATVLQQTYHAHRSDALQLGLGKHNYCRNPDNRRRPWCYVQVGLKLLVQECMVHDCADGKKPSSPPEELKF
QCGQKTLRPRFKIIGGEFTTIENQPWFVAIYRRHRGGSVTYVCGGSLISPCWVISATHCFIDYPKKEDYIVYLGRSRLNS
NTQGEMKFEVENLILHKDYSADTLAHHNDIALLKIRSKEGRCAQPSRTIQTICLPSMYNDPQFGTSCEITGFGKENSTDY
LYPEQLKMTVVKLISHRECQQPHYYGSEVTTKMLCAADPQWKTDSCQGDSGGPLVCSLQGRMTLTGIVSWGRGCALKDKP
GVYTRVSHFLPWIRSHTKEENGLAL*

Gene Symbol:C10orf55
Accession:NR_160938
Location:INTRON;NON-CODING

Gene Symbol:C10orf55
Accession:NR_160937
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000372309 CLINVAR
dbSNP (RS) rs145865648 CLINVAR
MedGen C1866423 CLINVAR
NCBI Gene C10orf55 CLINVAR
  LOC126860960 CLINVAR
  PLAU CLINVAR
OMIM 191840 CLINVAR
  601709 CLINVAR