RGD:401855764 Rat Genome Database

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Variant: RGD:401855764 -  Homo sapiens

RGD ID: 401855764
ClinVar ID: CV2757413
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM186A  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 50,749,262
GRCh38 12 50,355,479
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145475.3:c.1353G>C
NC_000012.12:g.50355479C>G
NC_000012.11:g.50749262C>G
NM_001145475.1:c.1353G>C
More...
07/25/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FAM186A
Accession:NM_001145475
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 451
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFFKMKNEIDNDPESEKCIKDSTIMRREPQNILSPLMLPNLEIPFSVKDIISRIERAQLHRAREDIDMQLSEIMNNVHRI
MTRYTLVFNSSSERNVSLTEHKKKQRTNFLEKMATYAKTIEIREKTLANILAWLEEWNDVLSEMTLMDVDEHHHWIAQME
LLPDTLKAIENNVKILSRFSTSFLDEKKKQKKKILSRGTLWKSWKERVIKRPSTARALRPDQMISDQLATNTKVSEIQGM
LQELIGTTMFSTLENNAIKYISSTIVNLSTALSMLNDELKCVNFQSSTVYAHETSEAEKELSLKIIRDLSNENEMLQQKL
QDAEEKCEQLIRSKIVIEQLYAKLSTSSTLKVLPGPSPQSSRAIIKVGDTEDNMDNILDKELENIVDEVQRKETKDSGIK
WDSTISYTAQAERTPDLTELRQQPVASEDISEDSTKDNVSLKKGDFYQEDDTDEYQSWKRSHKKATYVYETSGPNLSDNK
SGQKVSEAKPSQYYELQVLKKKRKEMKSFSEDKSKSPTEAKRKHLSLTETKSQGGKSGTSMMMLEQFRKVKRESPFDKRP
TAAEIKVEPTTESLDKEGKGEIRSLVEPLSMIQFDDTAEPQKGKIKGKKHHISSGTITSKEEKTEEKEELTKQVKSHQLV
KSLSRVAKETSESTRVLESPDGKSEQSNLEEFQEAIMAFLKQKIDNIGKAFDKKTVPKEEELLKRAEAEKLGIIKAKMEE
YFQKVAETVTKILRKYKDTKKEEQVGEKPIKQKKVVSFMPGLHFQKSPISAKSESSTLLSYESTDPVINNLIQMILAEIE
SERDIPTVSTVQKDHKEKEKQRQEQYLQEGQEQMSGMSLKQQLLGERNLLKEHYEKISENWEEKKAWLQMKEGKQEQQSQ
KQWQEEEMWKEEQKQATPKQAEQEEKQKQRGQEEEELPKSSLQRLEEGTQKMKTQGLLLEKENGQMRQIQKEAKHLGPHR
RREKGKEKQKPERGLEDLERQIKTKDQMQMKETQPKELEKMVIQTPMTLSPRWKSVLKDVQRSYEGKEFQRNLKTLENLP
DEKEPISITPPPSLQYSLPGALPISGQPLTKCIHLTPQQAQEVGITLTPQQAQAQGITLTLQQAQELGIPLTPQQAQALE
ILFTPQQAQALGIPLTPQQTQVQGITLTPQQDQAPGISLTTQQAQKLGIPLTPQQAQALGIPLTPQQAQELGIPLTPQQA
QALRVSLTPQQAQELGIPLTPQQAQALGITLTLQQAQQLGIPLTPQQAQALGITLTPKQVQELGIPLTPQQAQALGITLT
PKQAQELGIPLNPQQAQTLGIPLTPKQAQALGIPFTPQQAQALGIPLTPQQAQTQEITLTPQQAQALGMPLTTQQAQELG
IPLTPQHAQALGMPLTTQQAQELGIPLTPQQAQALGMPLTTQQAQELGIPLTPQQAQELGIPFTPQQAQAQEITLTPQQA
QALGMPLTAQQAQELGITLTPQQAQELGIPLTPQQAQALGIPLIPPQAQELGIPLTPQQAQALGILLIPPQAQELGIPLT
PQQAQALGIPLIPPQAQELGIPLTPQQVQALGIPLIPPQAQELEIPLTPQQAQALGIPLTPQQAQELGIPLTPQQAQELG
IPLTPQQAQAQGIPLTPQQAQALGISLTPQQAQAQGITLTPQQAQALGVPITPVNAWVSAVTLTSEQTHALESPMNLEQA
QEQLLKLGVPLTLDKAHTLGSPLTLKQVQWSHRPFQKSKASLPTGQSIISRLSPSLRLSLASSAPTAEKSSIFGVSSTPL
QISRVPLNQGPFAPGKPLEMGILSEPGKLGAPQTLRSSGQTLVYGGQSTSAQFPAPQAPPSPGQLPISRAPPTPGQPFIA
GVPPTSGQIPSLWAPLSPGQPLVPEASSIPGDLLESGPLTFSEQLQEFQPPATAEQSPYLQAPSTPGQHLATWTLPGRAS
SLWIPPTSRHPPTLWPSPAPGKPQKSWSPSVAKKRLAIISSLKSKSVLIHPSAPDFKVAQVPFTTKKFQMSEVSDTSEET
QILRDTFAIESFRTFQSHFTKYRTPVYQTPYTDERALLTLMKPTTSPSSLTTLLRTSQISPLEWYQKSRFPPIDKPWILS
SVSDTKKPKVMVPPSSPQELEEKRYFVDVEAQKKNLILLNQAIKTCGLPSQLHTMARTLIIEILHMDTVQLGYLFRKYIA
YRLIQHARNNIMKRLKAIQNTGKGYEARNLHMMLSRLDDYGKKVMQVWTEKQKSLGQKRNQCLKKMIHVFNQLKKIHELN
LSQPIPLIIEEKQIPASTTFVQKPFLKLLMEEDRTSDICKKFRQQEDQTEAIWNVDLSTSSYPIAEKTSMHSLWAQLGGY
PDIPRLLQLEVQSTFRKSLASLQSRVKKIPK*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003339957 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene FAM186A CLINVAR