RGD:8603120 Rat Genome Database

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Variant: RGD:8603120 -  Homo sapiens

RGD ID: 8603120
RS ID: rs387907280
ClinVar ID: CV45776
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAN1  MTMR10  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 31,222,767
GRCh38 15 30,930,564
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000015.10:g.30930564G>C
NC_000015.9:g.31222767G>C
NP_055782.3:p.Gly937Arg
NM_014967.5:c.2809G>C
More... 		08/29/2013 missense|missense variant pathogenic adult|variable 1-9 / 100 000|<1 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FAN1
Accession:XM_017022013
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 380
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDEDAACGGQGQLSTVLLVNLGRMEFPSYTINRKTHIFQDRDDLIRYAAATHMLSDISSAMANGNWEEAKELAQCAKRD
WNRLKNHPSLRCHEDLPLFLRCFTVGWIYTRILSRFVEILQRLHMYEEAVRELESLLSQRIYCPDSRGRWWDRLALNLHQ
HLKRLEPTIKCITEGLADPEVRTGHRLSLYQRAVRLRESPSCKKFKHLFQQLPEMAVQDVKHVTITGRLCPQRGMCKSVF
VMEAGEAADPTTVLCSVEELALAHYRRSGFDQGIHGEGSTFSTLYGLLLWDIIFMDGIPDVFRNACQAFPLDLCTDSFFT
SRRPALEARLQLIHDAPEESLRAWVAATWHEQEGRVASLVSWDRFTSLQQAQDLVSCLGRPVLSGVCRHLAADFRHCRGG
LPDLVVWNSQSRHFKLVEVKGPNDRLSHKQMIWLAELQKLGAEVEVCHVVAVGAKSQSLS*

Gene Symbol:FAN1
Accession:NM_014967
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 937
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSEGKPPDKKRPRRSLSISKNKKKASNSIISCFNNAPPAKLACPVCSKMVPRYDLNRHLDEMCANNDFVQVDPGQVGLI
NSNVSMVDLTSVTLEDVTPKKSPPPKTNLTPGQSDSAKREVKQKISPYFKSNDVVCKNQDELRNRSVKVICLGSLASKLS
RKYVKAKKSIDKDEEFAGSSPQSSKSTVVKSLIDNSSEIEDEDQILENSSQKENVFKCDSLKEECIPEHMVRGSKIMEAE
SQKATRECEKSALTPGFSDNAIMLFSPDFTLRNTLKSTSEDSLVKQECIKEVVEKREACHCEEVKMTVASEAKIQLSDSE
AKSHSSADDASAWSNIQEAPLQDDSCLNNDIPHSIPLEQGSSCNGPGQTTGHPYYLRSFLVVLKTVLENEDDMLLFDEQE
KGIVTKFYQLSATGQKLYVRLFQRKLSWIKMTKLEYEEIALDLTPVIEELTNAGFLQTESELQELSEVLELLSAPELKSL
AKTFHLVNPNGQKQQLVDAFLKLAKQRSVCTWGKNKPGIGAVILKRAKALAGQSVRICKGPRAVFSRILLLFSLTDSMED
EDAACGGQGQLSTVLLVNLGRMEFPSYTINRKTHIFQDRDDLIRYAAATHMLSDISSAMANGNWEEAKELAQCAKRDWNR
LKNHPSLRCHEDLPLFLRCFTVGWIYTRILSRFVEILQRLHMYEEAVRELESLLSQRIYCPDSRGRWWDRLALNLHQHLK
RLEPTIKCITEGLADPEVRTGHRLSLYQRAVRLRESPSCKKFKHLFQQLPEMAVQDVKHVTITGRLCPQRGMCKSVFVME
AGEAADPTTVLCSVEELALAHYRRSGFDQGIHGEGSTFSTLYGLLLWDIIFMDGIPDVFRNACQAFPLDLCTDSFFTSRR
PALEARLQLIHDAPEESLRAWVAATWHEQEGRVASLVSWDRFTSLQQAQDLVSCLGRPVLSGVCRHLAADFRHCRGGLPD
LVVWNSQSRHFKLVEVKGPNDRLSHKQMIWLAELQKLGAEVEVCHVVAVGAKSQSLS*

Gene Symbol:FAN1
Accession:XM_024449874
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 542
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEVLGSQGWLQASSAATGQKLYVRLFQRKLSWIKMTKLEYEEIALDLTPVIEELTNAGFLQTESELQELSEVLELLSAP
ELKSLAKTFHLVNPNGQKQQLVDAFLKLAKQRSVCTWGKNKPGIGAVILKRAKALAGQSVRICKGPRAVFSRILLLFSLT
DSMEDEDAACGGQGQLSTVLLVNLGRMEFPSYTINRKTHIFQDRDDLIRYAAATHMLSDISSAMANGNWEEAKELAQCAK
RDWNRLKNHPSLRCHEDLPLFLRCFTVGWIYTRILSRFVEILQRLHMYEEAVRELESLLSQRIYCPDSRGRWWDRLALNL
HQHLKRLEPTIKCITEGLADPEVRTGHRLSLYQRAVRLRESPSCKKFKHLFQQLPEMAVQDVKHVTITGRLCPQRGMCKS
VFVMEAGEAADPTTVLCSVEELALAHYRRSGFDQGIHGEGSTFSTLYGLLLWDIIFMDGIPDVFRNACQAFPLDLCTDSF
FTSRRPALEARLQLIHDAPEESLRAWVAATWHEQEGRVASLVSWDRFTSLQQAQDLVSCLGRPVLSGVCRHLAADFRHCR
GGLPDLVVWNSQSRHFKLVEVKGPNDRLSHKQMIWLAELQKLGAEVEVCHVVAVGAKSQSLS*

Gene Symbol:FAN1
Accession:XM_011521370
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 543
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSYRIPLLVISSQESKTTGQKLYVRLFQRKLSWIKMTKLEYEEIALDLTPVIEELTNAGFLQTESELQELSEVLELLSA
PELKSLAKTFHLVNPNGQKQQLVDAFLKLAKQRSVCTWGKNKPGIGAVILKRAKALAGQSVRICKGPRAVFSRILLLFSL
TDSMEDEDAACGGQGQLSTVLLVNLGRMEFPSYTINRKTHIFQDRDDLIRYAAATHMLSDISSAMANGNWEEAKELAQCA
KRDWNRLKNHPSLRCHEDLPLFLRCFTVGWIYTRILSRFVEILQRLHMYEEAVRELESLLSQRIYCPDSRGRWWDRLALN
LHQHLKRLEPTIKCITEGLADPEVRTGHRLSLYQRAVRLRESPSCKKFKHLFQQLPEMAVQDVKHVTITGRLCPQRGMCK
SVFVMEAGEAADPTTVLCSVEELALAHYRRSGFDQGIHGEGSTFSTLYGLLLWDIIFMDGIPDVFRNACQAFPLDLCTDS
FFTSRRPALEARLQLIHDAPEESLRAWVAATWHEQEGRVASLVSWDRFTSLQQAQDLVSCLGRPVLSGVCRHLAADFRHC
RGGLPDLVVWNSQSRHFKLVEVKGPNDRLSHKQMIWLAELQKLGAEVEVCHVVAVGAKSQSLS*

Gene Symbol:FAN1
Accession:XM_047432250
Location:INTRON

Gene Symbol:FAN1
Accession:NM_001146095
Location:INTRON

Gene Symbol:MTMR10
Accession:NM_017762
Location:INTRON

Gene Symbol:FAN1
Accession:NM_001146094
Location:INTRON

Gene Symbol:MTMR10
Accession:XM_047432773
Location:INTRON

Gene Symbol:MTMR10
Accession:XM_011521738
Location:INTRON

Gene Symbol:MTMR10
Accession:XM_047432771
Location:INTRON

Gene Symbol:MTMR10
Accession:XM_047432770
Location:INTRON

Gene Symbol:MTMR10
Accession:XM_047432772
Location:INTRON

Gene Symbol:FAN1
Accession:XM_011521372
Location:INTRON

Gene Symbol:FAN1
Accession:NM_001146096
Location:INTRON

Gene Symbol:MTMR10
Accession:XM_011521737
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:22772369  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000030748 CLINVAR
dbSNP (RS) rs387907280 CLINVAR
MedGen C3553774 CLINVAR
NCBI Gene FAN1 CLINVAR
  MTMR10 CLINVAR
OMIM 613534 CLINVAR
  614817 CLINVAR
OMIM Allele 613534.0008 CLINVAR