RGD:401743492 Rat Genome Database

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Variant: RGD:401743492 -  Homo sapiens

RGD ID: 401743492
ClinVar ID: CV2674678
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHF24  SPATA31F1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 34,724,788
GRCh38 9 34,724,791
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001141917.2:c.2449C>T
NG_052851.2:g.64186G>A
NG_052658.1:g.9748C>T
NC_000009.12:g.34724791G>A
More... 		03/20/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SPATA31F1
Accession:NM_001141917
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 817
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSPTFVLWEVGYPLYIYGSIFIVIVIIWQVKRSHHELSSEPKRSCCRCHQKVRQRARDAASTARRRSREEAEKPQKLLS
IIKSQGWLPLERSVRRILCADPCCQICNSVALEIQQLLVGENNQISLTLSGPLQGSSCLEMLSTSSMSLDQSLEFHSWHT
RELSLSSVTPTLSQLTDQKSLTQSAAQSTYADGIQDYWADHLQLGQEFQVPDVLRGPNTIASSRIEKPRAPLNQEEMTQS
NPSLVQGNQGQHHLNSQVSLLSLNPETLNRMHPMALHMVLPAHLPFLSPEVLRLLEVHVKKWMHFQRWGLPRRVEESLRQ
LMPNPPLYYQPGNDQPVSFNLKNTPQVSLHRFETISLQTWCSCVAGQPIQTFWVSEWSTMNPEQRHHCQQTPNPMALALP
SPALKALSGPHPQSGGQDNDSGSDLQQKYSQLFCGLPSLHSESLVATFMGSQGLPKIENVPKPPLKDPFLFNELSFPQLL
PKTSPQSAPPSSPLSPNWMSPSDHQRAQINVPFLTLAEYEALEWHLLQRQLQLQWGWPAALQRSQHTQCLMQHEPCGKAQ
SPETTTASQTGKSISVLTRELLFFPEHARKLLEFHIQKQLIRHRWGLPQKIQQSIQLLLTSTDQQTVSSSSTALANVSIP
QPVALEANGACDVLSPIAAPVSIPRPHLLTQVKAILQSHIDSKCGQIHQGKIPACVHRSWDCRISGVLAVAPFPCIPESQ
FLELQTASDPDLHHKVMPWMPTALDQQQQALPGTVTEHPKLLRVLSVEAIEKLETTLRHKHLAFLSGLPALYYVALPRAL
APAVTSQSVITEMEPSTVEIPAEPLIQMVSFEEQCISLGPCPQGNNESCTDVAKEFQPAVPVKGTMETLPLESQTHPTSP
HSLQTHILTKLNFHLRKKVLEIQWGIPIRARKSREQTVAAPENISTQKSLESLNHQGETLLQELPIPPDTLPAPNPEGVH
LKEQLANDLKAVQQNQKQSNSKAVPQGSAHSVSKISQPSGDMTEAHMPCVQVEANVNKPSLEEPCGPEPQSPSKSKDPAH
VPMLAGNREDPEETKAARDHREGDAGFGRSSTREERRPAEDQRPAGMLPNKTPRGSWRWSRSFHLADPCQHSPQHHPQLK
LPQLPPRVPGEKESEKDLQDSQTKLTVILEPATIPENAQTVLPQASQGQPFLSQPTQAKPLQGQTLQGQVLHGLVMPVHA
QKKPSLTESSFRNKIKCFLQHINPKTKGKGHEDSMFSAAAKVAKTRKENVAKSLAPAKSPVGRSKTEKPTGCSKAQSRPA
QKLVGPAFLDGPQSLDDKLRLHSRQPGSASALGYPRHCPRHCPREACANKPGHPT*

Gene Symbol:PHF24
Accession:NM_001395372
Location:INTRON

Gene Symbol:PHF24
Accession:NM_001395371
Location:INTRON

Gene Symbol:PHF24
Accession:XM_047423103
Location:INTRON

Gene Symbol:PHF24
Accession:XM_017014555
Location:INTRON

Gene Symbol:PHF24
Accession:NM_015297
Location:INTRON

Gene Symbol:PHF24
Accession:NM_001347983
Location:INTRON

Gene Symbol:PHF24
Accession:XM_017014553
Location:INTRON

Gene Symbol:PHF24
Accession:XM_017014554
Location:INTRON

Gene Symbol:PHF24
Accession:NM_001304333
Location:INTRON

Gene Symbol:PHF24
Accession:NM_001395369
Location:INTRON

Gene Symbol:PHF24
Accession:XM_017014556
Location:INTRON

Gene Symbol:PHF24
Accession:NM_001347982
Location:INTRON

Gene Symbol:PHF24
Accession:NM_001395370
Location:INTRON

Gene Symbol:PHF24
Accession:XM_047423102
Location:INTRON

Gene Symbol:PHF24
Accession:NR_136307
Location:INTRON;NON-CODING

Gene Symbol:PHF24
Accession:NR_136308
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004293971 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PHF24 CLINVAR
  SPATA31F1 CLINVAR
OMIM 619928 CLINVAR