RGD:151793871 Rat Genome Database

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Variant: RGD:151793871 -  Homo sapiens

RGD ID: 151793871
RS ID: rs563992464
ClinVar ID: CV1483651
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTHFD1  ZBTB25  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 64,924,960
GRCh38 14 64,458,242
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1243t1:c.2747G>A
NM_001304508.1:c.174-8604C>T
NM_001364837.1:c.2719-1517G>A
NM_005956.4:c.2747G>A
More... 		09/26/2021 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:MTHFD1
Accession:NM_005956
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 916
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPAEILNGKEISAQIRARLKNQVTQLKEQVPGFTPRLAILQVGNRDDSNLYINVKLKAAEEIGIKATHIKLPRTTTESE
VMKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAPEKDVDGLTSINAGKLARGDLNDCFIPCTPKGCLELIKETG
VPIAGRHAVVVGRSKIVGAPMHDLLLWNNATVTTCHSKTAHLDEEVNKGDILVVATGQPEMVKGEWIKPGAIVIDCGINY
VPDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKPGKWMIQYNNLNLKTPVPSDI
DISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSALERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAH
LYQNVFACVRQPSQGPTFGIKGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLV
PSVNGVRRFSDIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRFLRKITIGQAPTEKGHTRTAQ
FDISVASEIMAVLALTTSLEDMRERLGKMVVASSKKGEPVSAEDLGVSGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFA
NIAHGNSSIIADRIALKLVGPEGFVVTEAGFGADIGMEKFFNIKCRYSGLCPHVVVLVATVRALKMHGGGPTVTAGLPLP
KAYIQENLELVEKGFSNLKKQIENARMFGIPVVVAVNAFKTDTESELDLISRLSREHGAFDAVKCTHWAEGGKGALALAQ
AVQRAAQAPSSFQLLYDLKLPVEDKIRIIAQKIYGADDIELLPEAQHKAEVYTKQGFGNLPICMAKTHLSLSHNPEQKGV
PTGFILPIRDIRASVGAGFLYPLVGTMSTMPGLPTQPCFYDIDLDPETEQVNGLF*

Gene Symbol:ZBTB25
Accession:NM_006977
Location:INTRON

Gene Symbol:ZBTB25
Accession:NM_001354687
Location:INTRON

Gene Symbol:ZBTB25
Accession:NM_001354683
Location:INTRON

Gene Symbol:ZBTB25
Accession:NM_001354682
Location:INTRON

Gene Symbol:MTHFD1
Accession:NM_001364837
Location:INTRON

Gene Symbol:ZBTB25
Accession:NM_001304508
Location:INTRON

Gene Symbol:ZBTB25
Accession:NM_001354686
Location:INTRON

Gene Symbol:ZBTB25
Accession:NM_001354684
Location:INTRON

Gene Symbol:ZBTB25
Accession:NM_001304507
Location:INTRON

Gene Symbol:ZBTB25
Accession:XM_047431770
Location:INTRON

Gene Symbol:ZBTB25
Accession:NM_001354685
Location:INTRON

Gene Symbol:ZBTB25
Accession:XR_943522
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001909266 CLINVAR
dbSNP (RS) rs563992464 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MTHFD1 CLINVAR
  ZBTB25 CLINVAR
OMIM 172460 CLINVAR
  194541 CLINVAR