RGD:155903481 Rat Genome Database

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Variant: RGD:155903481 -  Homo sapiens

RGD ID: 155903481
ClinVar ID: CV2301648
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IRGM  ZNF300  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 150,276,089
GRCh38 5 150,896,527
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001346557.2:c.594-4062C>T
NM_001172832.3:c.604G>A
NP_001166302.1:p.Val254Ile
NM_052860.4:c.712G>A
More... 		09/14/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ZNF300
Accession:NM_052860
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 238
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMKSQGLVSFKDVAVDFTQEEWQQLDPSQRTLYRDVMLENYSHLVSMGYPVSKPDVISKLEQGEEPWIIKGDISNWIYPD
EYQADGRQDRKSNLHNSQSCILGTVSFHHKILKGVTRDGSLCSILKVCQGDGQLQRFLENQDKLFRQVTFVNSKTVTEAS
GHKYNPLGKIFQECIETDISIQRFHKYDAFKKNLKPNIDLPSCYKSNSRKKPDQSFGGGKSSSQSEPNSNLEKIHNGLIP
FDDNQCGNVFRNTQSLIQYQNVETKEKSCVCVTCGKAFAKKSQLIVHQRIHTGKKPYDCGACGKAFSEKFHLVVHQRTHT
GEKPYDCSECGKAFSQKSSLIIHQRVHTGEKPYECSECGKAFSQKSPLIIHQRIHTGEKPYECRECGKAFSQKSQLIIHH
RAHTGEKPYECTECGKAFCEKSHLIIHKRIHTGEKPYKCAQCEEAFSRKTELITHQLVHTGEKPYECTECGKTFSRKSQL
IIHQRTHTGEKPYKCSECGKAFCQKSHLIGHQRIHTGEKPYICTECGKAFSQKSHLPGHQRIHTGEKPYICAECGKAFSQ
KSDLVLHQRIHTGERPYQCAICGKAFIQKSQLTVHQRIHTVVKS*

Gene Symbol:ZNF300
Accession:NM_001172832
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLENYSHLVSMGYPVSKPDVISKLEQGEEPWIIKGDISNWIYPDEYQADGRQDRKSNLHNSQSCILGTVSFHHKILKGVT
RDGSLCSILKVCQGDGQLQRFLENQDKLFRQVTFVNSKTVTEASGHKYNPLGKIFQECIETDISIQRFHKYDAFKKNLKP
NIDLPSCYKSNSRKKPDQSFGGGKSSSQSEPNSNLEKIHNGLIPFDDNQCGNVFRNTQSLIQYQNVETKEKSCVCVTCGK
AFAKKSQLIVHQRIHTGKKPYDCGACGKAFSEKFHLVVHQRTHTGEKPYDCSECGKAFSQKSSLIIHQRVHTGEKPYECS
ECGKAFSQKSPLIIHQRIHTGEKPYECRECGKAFSQKSQLIIHHRAHTGEKPYECTECGKAFCEKSHLIIHKRIHTGEKP
YKCAQCEEAFSRKTELITHQLVHTGEKPYECTECGKTFSRKSQLIIHQRTHTGEKPYKCSECGKAFCQKSHLIGHQRIHT
GEKPYICTECGKAFSQKSHLPGHQRIHTGEKPYICAECGKAFSQKSDLVLHQRIHTGERPYQCAICGKAFIQKSQLTVHQ
RIHTVVKS*

Gene Symbol:ZNF300
Accession:NM_001172831
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 254
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPAETSSSGLLEEQKMMKSQGLVSFKDVAVDFTQEEWQQLDPSQRTLYRDVMLENYSHLVSMGYPVSKPDVISKLEQGE
EPWIIKGDISNWIYPDEYQADGRQDRKSNLHNSQSCILGTVSFHHKILKGVTRDGSLCSILKVCQGDGQLQRFLENQDKL
FRQVTFVNSKTVTEASGHKYNPLGKIFQECIETDISIQRFHKYDAFKKNLKPNIDLPSCYKSNSRKKPDQSFGGGKSSSQ
SEPNSNLEKIHNGLIPFDDNQCGNVFRNTQSLIQYQNVETKEKSCVCVTCGKAFAKKSQLIVHQRIHTGKKPYDCGACGK
AFSEKFHLVVHQRTHTGEKPYDCSECGKAFSQKSSLIIHQRVHTGEKPYECSECGKAFSQKSPLIIHQRIHTGEKPYECR
ECGKAFSQKSQLIIHHRAHTGEKPYECTECGKAFCEKSHLIIHKRIHTGEKPYKCAQCEEAFSRKTELITHQLVHTGEKP
YECTECGKTFSRKSQLIIHQRTHTGEKPYKCSECGKAFCQKSHLIGHQRIHTGEKPYICTECGKAFSQKSHLPGHQRIHT
GEKPYICAECGKAFSQKSDLVLHQRIHTGERPYQCAICGKAFIQKSQLTVHQRIHTVVKS*

Gene Symbol:ZNF300
Accession:XM_047417874
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 243
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPIVQLYPQGLVSFKDVAVDFTQEEWQQLDPSQRTLYRDVMLENYSHLVSMGYPVSKPDVISKLEQGEEPWIIKGDISN
WIYPDEYQADGRQDRKSNLHNSQSCILGTVSFHHKILKGVTRDGSLCSILKVCQGDGQLQRFLENQDKLFRQVTFVNSKT
VTEASGHKYNPLGKIFQECIETDISIQRFHKYDAFKKNLKPNIDLPSCYKSNSRKKPDQSFGGGKSSSQSEPNSNLEKIH
NGLIPFDDNQCGNVFRNTQSLIQYQNVETKEKSCVCVTCGKAFAKKSQLIVHQRIHTGKKPYDCGACGKAFSEKFHLVVH
QRTHTGEKPYDCSECGKAFSQKSSLIIHQRVHTGEKPYECSECGKAFSQKSPLIIHQRIHTGEKPYECRECGKAFSQKSQ
LIIHHRAHTGEKPYECTECGKAFCEKSHLIIHKRIHTGEKPYKCAQCEEAFSRKTELITHQLVHTGEKPYECTECGKTFS
RKSQLIIHQRTHTGEKPYKCSECGKAFCQKSHLIGHQRIHTGEKPYICTECGKAFSQKSHLPGHQRIHTGEKPYICAECG
KAFSQKSDLVLHQRIHTGERPYQCAICGKAFIQKSQLTVHQRIHTVVKS*

Gene Symbol:IRGM
Accession:NM_001145805
Location:INTRON

Gene Symbol:IRGM
Accession:NM_001346557
Location:INTRON

Gene Symbol:IRGM
Accession:NR_170598
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004162550 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene IRGM CLINVAR
  ZNF300 CLINVAR
OMIM 608212 CLINVAR
  612429 CLINVAR