RGD:156341254 Rat Genome Database

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Variant: RGD:156341254 -  Homo sapiens

RGD ID: 156341254
ClinVar ID: CV2225796
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHF24  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 34,971,578
GRCh38 9 34,971,581
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001395370.1:c.-41+235A>G
NM_001395371.1:c.-41+235A>G
NM_001395372.1:c.-41+235A>G
NM_001304333.3:c.283A>G
More... 		08/02/2021 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PHF24
Accession:NM_001395371
Location:5UTRS;INTRON

Gene Symbol:PHF24
Accession:NM_001395370
Location:5UTRS;INTRON

Gene Symbol:PHF24
Accession:NM_001395372
Location:5UTRS;INTRON

Gene Symbol:PHF24
Accession:NM_015297
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLMSKRQTVEQVQKVSLAVSAFKDGLRDRPSIRRTGELPGSRRGTVEGSVQEVQEEKEAEAGTSVVQEESSAGRAAWE
RLRDGRGVEPEEFDGTSRFTPPAFIRPTRKLDDDKPPEICLEPREPVVNDEMCDVCEVWTAESLFPCRVCTRVFHDGCLR
RMGYIQGDSAAEVTEMAHTETGWSCHYCDNINLLLTEEEMYSLTETFQRCKVIPDCSLTLEDFLRYRHQAAKRGDRDRAL
SEEQEEQAARQFAALDPEHRGHIEWPDFLSHESLLLLQQLRPQNSLLRLLTVKERERARAAFLARGSGSTVSEAECRRAQ
HSWFCKRFPEAPSCSVSISHVGPIADSSPASSSSKSQDKTLLPTEQESRFVDWPTFLQENVLYILAARPNSAAIHLKPPG
*

Gene Symbol:PHF24
Accession:NM_001304333
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLMSKRQTVEQVQKVSLAVSAFKDGLRDRPSIRRTGELPGSRRGTVEGSVQEVQEEKEAEAGTSVVQEESSAGRAAWE
RLRDGRGVEPEEFDGTSRFTPPAFIRPTRKLDDDKPPEICLEPREPVVNDEMCDVCEVWTAESLFPCRVCTRVFHDGCLR
RMGYIQGDSAAEVTEMAHTETGWSCHYCDNINLLLTEEEMYSLTETFQRCKVIPDCSLTLEDFLRYRHQAAKRGDRDRAL
SEEQEEQAARQFAALDPEHRGHIEWPDFLSHESLLLLQQLRPQNSLLRLLTVKERERARAAFLARGSGSTVSEAECRRAQ
HSWFCKRFPEAPSCSVSISHVGPIADSSPASSSSKSQDKTLLPTEQESRFVDWPTFLQENVLYILAARPNSAAIHLKPPG
*

Gene Symbol:PHF24
Accession:XM_017014554
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMLLAMGVLMSKRQTVEQVQKVSLAVSAFKDGLRDRPSIRRTGELPGSRRGTVEGSVQEVQEEKEAEAGTSVVQEESSAG
RAAWERLRDGRGVEPEEFDGTSRFTPPAFIRPTRKLDDDKPPEICLEPREPVVNDEMCDVCEVWTAESLFPCRVCTRVFH
DGCLRRMGYIQGDSAAEVTEMAHTETGWSCHYCDNINLLLTEEEMYSLTETFQRCKVIPDCSLTLEDFLRYRHQAAKRGD
RDRALSEEQEEQAARQFAALDPEHRGHIEWPDFLSHESLLLLQQLRPQNSLLRLLTVKERERARAAFLARGSGSTVSEAE
CRRAQHSWFCKRFPEAPSCSVSSISHVGPIADSSPASSSSKSQDKTLLPTEQESRFVDWPTFLQENVLYILAARPNSAAI
HLKPPG*

Gene Symbol:PHF24
Accession:XM_017014555
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMLLAMGVLMSKRQTVEQVQKVSLAVSAFKDGLRDRPSIRRTGELPGSRRGTVEGSVQEVQEEKEAEAGTSVVQEESSAG
RAAWERLRDGRGVEPEEFDGTSRFTPPAFIRPTRKLDDDKPPEICLEPREPVVNDEMCDVCEVWTAESLFPCRVCTRVFH
DGCLRRMGYIQGDSAAEVTEMAHTETGWSCHYCDNINLLLTEEEMYSLTETFQRCKVIPDCSLTLEDFLRYRHQAAKRGD
RDRALSEEQEEQAARQFAALDPEHRGHIEWPDFLSHESLLLLQQLRPQNSLLRLLTVKERERARAAFLARGSGSTVSEAE
CRRAQHSWFCKRFPEAPSCSVSSISHVGPIADSSPASSSSKSQDKTLLPTEQESRFVDWPTFLQENVLYILAARPNSAAI
HLKPPG*

Gene Symbol:PHF24
Accession:XM_017014553
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMLLAMGVLMSKRQTVEQVQKVSLAVSAFKDGLRDRPSIRRTGELPGSRRGTVEGSVQEVQEEKEAEAGTSVVQEESSAG
RAAWERLRDGRGVEPEEFDGTSRFTPPAFIRPTRKLDDDKPPEICLEPREPVVNDEMCDVCEVWTAESLFPCRVCTRVFH
DGCLRRMGYIQGDSAAEVTEMAHTETGWSCHYCDNINLLLTEEEMYSLTETFQRCKVIPDCSLTLEDFLRYRHQAAKRGD
RDRALSEEQEEQAARQFAALDPEHRGHIEWPDFLSHESLLLLQQLRPQNSLLRLLTVKERERARAAFLARGSGSTVSEAE
CRRAQHSWFCKRFPEAPSCSVSSISHVGPIADSSPASSSSKSQDKTLLPTEQESRFVDWPTFLQENVLYILAARPNSAAI
HLKPPG*

Gene Symbol:PHF24
Accession:XM_017014556
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMLLAMGVLMSKRQTVEQVQKVSLAVSAFKDGLRDRPSIRRTGELPGSRRGTVEGSVQEVQEEKEAEAGTSVVQEESSAG
RAAWERLRDGRGVEPEEFDGTSRFTPPAFIRPTRKLDDDKPPEICLEPREPVVNDEMCDVCEVWTAESLFPCRVCTRVFH
DGCLRRMGYIQGDSAAEVTEMAHTETGWSCHYCDNINLLLTEEEMYSLTETFQRCKVIPDCSLTLEDFLRYRHQAAKRGD
RDRALSEEQEEQAARQFAALDPEHRGHIEWPDFLSHESLLLLQQLRPQNSLLRLLTVKERERARAAFLARGSGSTVSEAE
CRRAQHSWFCKRFPEAPSCSVSSISHVGPIADSSPASSSSKSQDKTLLPTEQESRFVDWPTFLQENVLYILAARPNSAAI
HLKPPG*

Gene Symbol:PHF24
Accession:NM_001347982
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLMSKRQTVEQVQKVSLAVSAFKDGLRDRPSIRRTGELPGSRRGTVEGSVQEVQEEKEAEAGTSVVQEESSAGRAAWE
RLRDGRGVEPEEFDGTSRFTPPAFIRPTRKLDDDKPPEICLEPREPVVNDEMCDVCEVWTAESLFPCRVCTRVFHDGCLR
RMGYIQGDSAAEVTEMAHTETGWSCHYCDNINLLLTEEEMYSLTETFQRCKVIPDCSLTLEDFLRYRHQAAKRGDRDRAL
SEEQEEQAARQFAALDPEHRGHIEWPDFLSHESLLLLQQLRPQNSLLRLLTVKERERARAAFLARGSGSTVSEAECRRAQ
HSWFCKRFPEAPSCSVSSISHVGPIADSSPASSSSKSQDKTLLPTEQESRFVDWPTFLQENVLYILAARPNSAAIHLKPP
G*

Gene Symbol:PHF24
Accession:NM_001347983
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLMSKRQTVEQVQKVSLAVSAFKDGLRDRPSIRRTGELPGSRRGTVEGSVQEVQEEKEAEAGTSVVQEESSAGRAAWE
RLRDGRGVEPEEFDGTSRFTPPAFIRPTRKLDDDKPPEICLEPREPVVNDEMCDVCEVWTAESLFPCRVCTRVFHDGCLR
RMGYIQGDSAAEVTEMAHTETGWSCHYCDNINLLLTEEEMYSLTETFQRCKVIPDCSLTLEDFLRYRHQAAKRGDRDRAL
SEEQEEQAARQFAALDPEHRGHIEWPDFLSHESLLLLQQLRPQNSLLRLLTVKERERARAAFLARGSGSTVSEAECRRAQ
HSWFCKRFPEAPSCSVSSISHVGPIADSSPASSSSKSQDKTLLPTEQESRFVDWPTFLQENVLYILAARPNSAAIHLKPP
G*

Gene Symbol:PHF24
Accession:NM_001395369
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAAWSLRSLTGQVDSHPLRSSAPPGSWMMTNLQKSAWSPESLVCTRVFHDGCLRRMGYIQGDSAAEVTEMAHTETGWSC
HYCDNINLLLTEEEMYSLTETFQRCKVIPDCSLTLEDFLRYRHQAAKRGDRDRALSEEQEEQAARQFAALDPEHRGHIEW
PDFLSHESLLLLQQLRPQNSLLRLLTVKERERARAAFLARGSGSTVSEAECRRAQHSWFCKRFPEAPSCSVSSISHVGPI
ADSSPASSSSKSQDKTLLPTEQESRFVDWPTFLQENVLYILAARPNSAAIHLKPPG*

Gene Symbol:PHF24
Accession:XM_047423102
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYNCAGDLPGPTAGLIQGEVMPGCEKEKELHKGYQLKLKTYFTGLIQCRNSFILLSKPTSGASGRMMLLAMGVLMSKRQ
TVEQVQKVSLAVSAFKDGLRDRPSIRRTGELPGSRRGTVEGSVQEVQEEKEAEAGTSVVQEESSAGRAAWERLRDGRGVE
PEEFDGTSRFTPPAFIRPTRKLDDDKPPEICLEPREPVVNDEMCDVCEVWTAESLFPCRVCTRVFHDGCLRRMGYIQGDS
AAEVTEMAHTETGWSCHYCDNINLLLTEEEMYSLTETFQRCKVIPDCSLTLEDFLRYRHQAAKRGDRDRALSEEQEEQAA
RQFAALDPEHRGHIEWPDFLSHESLLLLQQLRPQNSLLRLLTVKERERARAAFLARGSGSTVSEAECRRAQHSWFCKRFP
EAPSCSVSSISHVGPIADSSPASSSSKSQDKTLLPTEQESRFVDWPTFLQENVLYILAARPNSAAIHLKPPG*

Gene Symbol:PHF24
Accession:XM_047423103
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGCEKEKELHKGYQLKLKTYFTGLIQCRNSFILLSKPTSGASGRMMLLAMGVLMSKRQTVEQVQKVSLAVSAFKDGLRD
RPSIRRTGELPGSRRGTVEGSVQEVQEEKEAEAGTSVVQEESSAGRAAWERLRDGRGVEPEEFDGTSRFTPPAFIRPTRK
LDDDKPPEICLEPREPVVNDEMCDVCEVWTAESLFPCRVCTRVFHDGCLRRMGYIQGDSAAEVTEMAHTETGWSCHYCDN
INLLLTEEEMYSLTETFQRCKVIPDCSLTLEDFLRYRHQAAKRGDRDRALSEEQEEQAARQFAALDPEHRGHIEWPDFLS
HESLLLLQQLRPQNSLLRLLTVKERERARAAFLARGSGSTVSEAECRRAQHSWFCKRFPEAPSCSVSSISHVGPIADSSP
ASSSSKSQDKTLLPTEQESRFVDWPTFLQENVLYILAARPNSAAIHLKPPG*

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004103203 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PHF24 CLINVAR
OMIM 619928 CLINVAR