RGD:401961533 Rat Genome Database

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Variant: RGD:401961533 -  Homo sapiens

RGD ID: 401961533
ClinVar ID: CV2843877
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GFM1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 158,362,476
GRCh38 3 158,644,687
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001361284.1:p.Pro18Leu
NP_001361285.1:p.Pro18Leu
NP_001361287.1:p.Pro18Leu
NP_079272.4:p.Pro18Leu
More... 		04/19/2022 5 prime utr variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GFM1
Accession:NM_001374361
Location:5UTRS;EXON

Gene Symbol:GFM1
Accession:NM_001374360
Location:5UTRS;EXON

Gene Symbol:GFM1
Accession:NM_001374359
Location:5UTRS;EXON

Gene Symbol:GFM1
Accession:NM_001374357
Location:5UTRS;EXON

Gene Symbol:GFM1
Accession:NM_001374356
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLLGAAAVAALGRGRALASLGWQRKQVNWKACRWSSSGVIPNEKIRNIGISAHIDSGKTTLTERVLYYTGRIAKMHEVK
GKDGVGAVMDSMELERQRGITIQSAATYTMWKDVNINIIDTPGHVDFTIEVERALRVLDGAVLVLCAVGGVQCQTMTVNR
QMKRYNVPFLTFINKLDRMGSNPARALQQMSQIVRYGEIPAELRAAATDHRQELIECVANSDEQLGEMFLEEKIPSISDL
KLAIRRATLKRSFTPVFLGSALKNKGVQPLLDAVLEYLPNPSEVQNYAILNKEDDSKEKTKILMNSSRDNSHPFVGLAFK
LEVGRFGQLTYVRSYQGELKKGDTIYNTRTRKKVRLQRLARMHADMMEDVEEVYAGDICALFGIDCASGDTFTDKANSGL
SMESIHVPDPVISIAMKPSNKNDLEKFSKGIGRFTREDPTFKVYFDTENKETVISGMGELHLEIYAQRLEREYGCPCITG
KPKVAFRETITAPVPFDFTHKKQSGGAGQYGKVIGVLEPLDPEDYTKLEFSDETFGSNIPKQFVPAVEKGFLDACEKGPL
SGHKLSGLRFVLQDGAHHMVDSNEISFIRAGEGALKQALANATLCILEPIMAVEVVAPNEFQGQVIAGINRRHGVITGQD
GVEDYFTLYADVPLNDMFGYSTELRSCTEGKGEYTMEYSRYQPCLPSTQEDVINKYLEATGQLPVKKGKAKN*

Gene Symbol:GFM1
Accession:NM_001374355
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLLGAAAVAALGRGRALASLGWQRKQVNWKACRWSSSGVIPNEKIRNIGISAHIDSGKTTLTERVLYYTGRIAKMHEVK
GKDGVGAVMDSMELERQRGITIQSAATYTMWKDVNINIIDTPGHVDFTIEVERALRVLDGAVLVLCAVGGVQCQTMTVNR
QMKRYNVPFLTFINKLDRMGSNPARALQQMRSKLNHNAAFMQIPMGLEGNFKGIVDLIEERAIYFDGDFGHFLRDFLPLL
WNWDRRSGSQIVRYGEIPAELRAAATDHRQELIECVANSDEQLGEMFLEEKIPSISDLKLAIRRATLKRSFTPVFLGSAL
KNKGVQPLLDAVLEYLPNPSEVQNYAILNKEDDSKEKTKILMNSSRDNSHPFVGLAFKLEDVEEVYAGDICALFGIDCAS
GDTFTDKANSGLSMESIHVPDPVISIAMKPSNKNDLEKFSKGIGRFTREDPTFKVYFDTENKETVISGMGELHLEIYAQR
LEREYGCPCITGKPKVAFRETITAPVPFDFTHKKQSGGAGQYGKVIGVLEPLDPEDYTKLEFSDETFGSNIPKQFVPAVE
KGFLDACEKGPLSGHKLSGLRFVLQDGAHHMVDSNEISFIRAGEGALKQALANATLCILEPIMAVEVVAPNEFQGQVIAG
INRRHGVITGQDGVEDYFTLYADVPLNDMFGYSTELRSCTEGKGEYTMEYSRYQPCLPSTQEDVINKYLEATGQLPVKKG
KAKN*

Gene Symbol:GFM1
Accession:NM_001308166
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLLGAAAVAALGRGRALASLGWQRKQVNWKACRWSSSGVIPNEKIRNIGISAHIDSGKTTLTERVLYYTGRIAKMHEVK
GKDGVGAVMDSMELERQRGITIQSAATYTMWKDVNINIIDTPGHVDFTIEVERALRVLDGAVLVLCAVGGVQCQTMTVNR
QMKRYNVPFLTFINKLDRMGSNPARALQQMRSKLNHNAAFMQIPMGLEGNFKGIVDLIEERAIYFDGDFGQIVRYGEIPA
ELRAAATDHRQELIECVANSDEQLGEMFLEEKIPSISDLKLAIRRATLKRSFTPVFLGSALKNKGVQPLLDAVLEYLPNP
SEVQNYAILNKEDDSKEKTKILMNSSRDNSHPFVGLAFKLEVGRFGQLTYVRSYQGELKKGDTIYNTRTRKKVRLQRLAR
MHADMMEDVEEVYAGDICALFGIDCASGDTFTDKANSGLSMESIHVPDPVISIAMKPSNKNDLEKFSKGIGRFTREDPTF
KVYFDTENKETVISGMGELHLEIYAQRLEREYGCPCITGKPKVAFRETITAPVPFDFTHKKQSGGAGQYGKVIGVLEPLD
PEDYTKLEFSDETFGSNIPKQFVPAVEKVNF*

Gene Symbol:GFM1
Accession:NM_024996
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLLGAAAVAALGRGRALASLGWQRKQVNWKACRWSSSGVIPNEKIRNIGISAHIDSGKTTLTERVLYYTGRIAKMHEVK
GKDGVGAVMDSMELERQRGITIQSAATYTMWKDVNINIIDTPGHVDFTIEVERALRVLDGAVLVLCAVGGVQCQTMTVNR
QMKRYNVPFLTFINKLDRMGSNPARALQQMRSKLNHNAAFMQIPMGLEGNFKGIVDLIEERAIYFDGDFGQIVRYGEIPA
ELRAAATDHRQELIECVANSDEQLGEMFLEEKIPSISDLKLAIRRATLKRSFTPVFLGSALKNKGVQPLLDAVLEYLPNP
SEVQNYAILNKEDDSKEKTKILMNSSRDNSHPFVGLAFKLEVGRFGQLTYVRSYQGELKKGDTIYNTRTRKKVRLQRLAR
MHADMMEDVEEVYAGDICALFGIDCASGDTFTDKANSGLSMESIHVPDPVISIAMKPSNKNDLEKFSKGIGRFTREDPTF
KVYFDTENKETVISGMGELHLEIYAQRLEREYGCPCITGKPKVAFRETITAPVPFDFTHKKQSGGAGQYGKVIGVLEPLD
PEDYTKLEFSDETFGSNIPKQFVPAVEKGFLDACEKGPLSGHKLSGLRFVLQDGAHHMVDSNEISFIRAGEGALKQALAN
ATLCILEPIMAVEVVAPNEFQGQVIAGINRRHGVITGQDGVEDYFTLYADVPLNDMFGYSTELRSCTEGKGEYTMEYSRY
QPCLPSTQEDVINKYLEATGQLPVKKGKAKN*

Gene Symbol:GFM1
Accession:NM_001308164
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLLGAAAVAALGRGRALASLGWQRKQVNWKACRWSSSGVIPNEKIRNIGISAHIDSGKTTLTERVLYYTGRIAKMHEVK
GKDGVGAVMDSMELERQRGITIQSAATYTMWKDVNINIIDTPGHVDFTIEVERALRVLDGAVLVLCAVGGVQCQTMTVNR
QMKRYNVPFLTFINKLDRMGSNPARALQQMRSKLNHNAAFMQIPMGLEGNFKGIVDLIEERAIYFDGDFGHFLRDFLPLL
WNWDRRSGSQIVRYGEIPAELRAAATDHRQELIECVANSDEQLGEMFLEEKIPSISDLKLAIRRATLKRSFTPVFLGSAL
KNKGVQPLLDAVLEYLPNPSEVQNYAILNKEDDSKEKTKILMNSSRDNSHPFVGLAFKLEVGRFGQLTYVRSYQGELKKG
DTIYNTRTRKKVRLQRLARMHADMMEDVEEVYAGDICALFGIDCASGDTFTDKANSGLSMESIHVPDPVISIAMKPSNKN
DLEKFSKGIGRFTREDPTFKVYFDTENKETVISGMGELHLEIYAQRLEREYGCPCITGKPKVAFRETITAPVPFDFTHKK
QSGGAGQYGKVIGVLEPLDPEDYTKLEFSDETFGSNIPKQFVPAVEKGFLDACEKGPLSGHKLSGLRFVLQDGAHHMVDS
NEISFIRAGEGALKQALANATLCILEPIMAVEVVAPNEFQGQVIAGINRRHGVITGQDGVEDYFTLYADVPLNDMFGYST
ELRSCTEGKGEYTMEYSRYQPCLPSTQEDVINKYLEATGQLPVKKGKAKN*

Gene Symbol:GFM1
Accession:NM_001374358
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLLGAAAVAALGRGRALASLGWQRKQVNWKACRWSSSGVIPNEKIRNIGISAHIDSGKTTLTERVLYYTGRIAKMHEIV
RYGEIPAELRAAATDHRQELIECVANSDEQLGEMFLEEKIPSISDLKLAIRRATLKRSFTPVFLGSALKNKGVQPLLDAV
LEYLPNPSEVQNYAILNKEDDSKEKTKILMNSSRDNSHPFVGLAFKLEVGRFGQLTYVRSYQGELKKGDTIYNTRTRKKV
RLQRLARMHADMMEDVEEVYAGDICALFGIDCASGDTFTDKANSGLSMESIHVPDPVISIAMKPSNKNDLEKFSKGIGRF
TREDPTFKVYFDTENKETVISGMGELHLEIYAQRLEREYGCPCITGKPKVAFRETITAPVPFDFTHKKQSGGAGQYGKVI
GVLEPLDPEDYTKLEFSDETFGSNIPKQFVPAVEKGFLDACEKGPLSGHKLSGLRFVLQDGAHHMVDSNEISFIRAGEGA
LKQALANATLCILEPIMAVEVVAPNEFQGQVIAGINRRHGVITGQDGVEDYFTLYADVPLNDMFGYSTELRSCTEGKGEY
TMEYSRYQPCLPSTQEDVINKYLEATGQLPVKKGKAKN*

Gene Symbol:GFM1
Accession:NR_164499
Location:EXON;NON-CODING

Gene Symbol:GFM1
Accession:NR_164501
Location:EXON;NON-CODING

Gene Symbol:GFM1
Accession:NR_164502
Location:EXON;NON-CODING

Gene Symbol:GFM1
Accession:NR_164500
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003481716 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GFM1 CLINVAR
OMIM 606639 CLINVAR