RGD:155973468 Rat Genome Database

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Variant: RGD:155973468 -  Homo sapiens

RGD ID: 155973468
ClinVar ID: CV2224660
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZNF397  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 18 32,825,477
GRCh38 18 35,245,513
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032347.3:c.646+162A>G
NM_001135178.3:c.808A>G
NG_015815.1:g.9484A>G
NC_000018.10:g.35245513A>G
More... 		07/06/2021 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZNF397
Accession:XM_024451275
Location:5UTRS;EXON

Gene Symbol:ZNF397
Accession:XM_047437890
Location:5UTRS;EXON

Gene Symbol:ZNF397
Accession:NM_001135178
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVESGVISTLIPQDPPEQELILVKVEDNFSWDEKFKQNGSTQSCQELFRQQFRKFCYQETPGPREALSRLQELCYQWLM
PELHTKEQILELLVLEQFLSILPEELQIWVQQHNPESGEEAVTLLEDLEREFDDPGQQVPASPQGPAVPWKDLTCLRASQ
ESTDIHLQPLKTQLKSWKPCLSPKSDCENSETATKEGISEEKSQGLPQEPSFRGISEHESNLVWKQGSATGEKLRSPSQG
GSFSQVIFTNKSLGKRDLYDEAERCLILTADSIMCQKVPPEERPYRCDVCGHSFKQHSSLTQHQRIHTGEKPYKCNQCGK
AFSLRSYLIIHQRIHSGEKAYECSECGKAFNQSSALIRHRKIHTGEKACKCNECGKAFSQSSYLIIHQRIHTGEKPYECN
ECGKTFSQSSKLIRHQRIHTGERPYECNECGKAFRQSSELITHQRIHSGEKPYECSECGKAFSLSSNLIRHQRIHSGEEP
YQCNECGKTFKRSSALVQHQRIHSGDEAYICNECGKAFRHRSVLMRHQRVHTIK*

Gene Symbol:ZNF397
Accession:XM_006722558
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVESGVISTLIPQDPPEQELILVKVEDNFSWDEKFKQNGSTQSCQELFRQQFRKFCYQETPGPREALSRLQELCYQWLM
PELHTKEQILELLVLEQFLSILPEELQIWVQQHNPESGEEAVTLLEDLEREFDDPGQQVGTEKSDVGKGIYSLEHVMVPA
SPQGPAVPWKDLTCLRASQESTDIHLQPLKTQLKSWKPCLSPKSDCENSETATKEGISEEKSQGLPQEPSFRGISEHESN
LVWKQGSATGEKLRSPSQGGSFSQVIFTNKSLGKRDLYDEAERCLILTADSIMCQKVPPEERPYRCDVCGHSFKQHSSLT
QHQRIHTGEKPYKCNQCGKAFSLRSYLIIHQRIHSGEKAYECSECGKAFNQSSALIRHRKIHTGEKACKCNECGKAFSQS
SYLIIHQRIHTGEKPYECNECGKTFSQSSKLIRHQRIHTGERPYECNECGKAFRQSSELITHQRIHSGEKPYECSECGKA
FSLSSNLIRHQRIHSGEEPYQCNECGKTFKRSSALVQHQRIHSGDEAYICNECGKAFRHRSVLMRHQRVHTIK*

Gene Symbol:ZNF397
Accession:XM_011526229
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVESGVISTLIPQDPPEQELILVKVEDNFSWDEKFKQNGSTQSCQELFRQQFRKFCYQETPGPREALSRLQELCYQWLM
PELHTKEQILELLVLEQFLSILPEELQIWVQQHNPESGEEAVTLLEDLEREFDDPGQQVGTEKSDVGKGIYSLEHVMVPA
SPQGPAVPWKDLTCLRASQESTDIHLQPLKTQLKSWKPCLSPKSDCENSETATKEGISEEKSQGLPQEPSFRGISEHESN
LVWKQGSATGEKLRSPSQGGSFSQVIFTNKSLGKRDLYDEAERCLILTADSIMCQKVPPEERPYRCDVCGHSFKQHSSLT
QHQRIHTGEKPYKCNQCGKAFSLRSYLIIHQRIHSGEKAYECSECGKAFNQSSALIRHRKIHTGEKACKCNECGKAFSQS
SYLIIHQRIHTGEKPYECNECGKTFSQSSKLIRHQRIHTGERPYECNECGKAFRQSSELITHQRIHSGEKPYECSECGKA
FSLSSNLIRHQRIHSGEEPYQCNECGKTFKRSSALVQHQRIHSGDEAYICNECGKAFRHRSVLMRHQRVHTIK*

Gene Symbol:ZNF397
Accession:XM_011526230
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVESGVISTLIPQDPPEQELILVKVEDNFSWDEKFKQNGSTQSCQELFRQQFRKFCYQETPGPREALSRLQELCYQWLM
PELHTKEQILELLVLEQFLSILPEELQIWVQQHNPESGEEAVTLLEDLEREFDDPGQQVGTEKSDVGKGIYSLEHVMVPA
SPQGPAVPWKDLTCLRASQESTDIHLQPLKTQLKSWKPCLSPKSDCENSETATKEGISEEKSQGLPQEPSFRGISEHESN
LVWKQGSATGEKLRSPSQGGSFSQVIFTNKSLGKRDLYDEAERCLILTADSIMCQKVPPEERPYRCDVCGHSFKQHSSLT
QHQRIHTGEKPYKCNQCGKAFSLRSYLIIHQRIHSGEKAYECSECGKAFNQSSALIRHRKIHTGEKACKCNECGKAFSQS
SYLIIHQRIHTGEKPYECNECGKTFSQSSKLIRHQRIHTGERPYECNECGKAFRQSSELITHQRIHSGEKPYECSECGKA
FSLSSNLIRHQRIHSGEEPYQCNECGKTFKRSSALVQHQRIHSGDEAYICNECGKAFRHRSVLMRHQRVHTIK*

Gene Symbol:ZNF397
Accession:XM_011526231
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVESGVISTLIPQDPPEQELILVKVEDNFSWDEKFKQNGSTQSCQELFRQQFRKFCYQETPGPREALSRLQELCYQWLM
PELHTKEQILELLVLEQFLSILPEELQIWVQQHNPESGEEAVTLLEDLEREFDDPGQQVPASPQGPAVPWKDLTCLRASQ
ESTDIHLQPLKTQLKSWKPCLSPKSDCENSETATKEGISEEKSQGLPQEPSFRGISEHESNLVWKQGSATGEKLRSPSQG
GSFSQVIFTNKSLGKRDLYDEAERCLILTADSIMCQKVPPEERPYRCDVCGHSFKQHSSLTQHQRIHTGEKPYKCNQCGK
AFSLRSYLIIHQRIHSGEKAYECSECGKAFNQSSALIRHRKIHTGEKACKCNECGKAFSQSSYLIIHQRIHTGEKPYECN
ECGKTFSQSSKLIRHQRIHTGERPYECNECGKAFRQSSELITHQRIHSGEKPYECSECGKAFSLSSNLIRHQRIHSGEEP
YQCNECGKTFKRSSALVQHQRIHSGDEAYICNECGKAFRHRSVLMRHQRVHTIK*

Gene Symbol:ZNF397
Accession:XM_047437888
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVESGVISTLIPQDPPEQELILVKVEDNFSWDEKFKQNGSTQSCQELFRQQFRKFCYQETPGPREALSRLQELCYQWLM
PELHTKEQILELLVLEQFLSILPEELQIWVQQHNPESGEEAVTLLEDLEREFDDPGQQVPASPQGPAVPWKDLTCLRASQ
ESTDIHLQPLKTQLKSWKPCLSPKSDCENSETATKEGISEEKSQGLPQEPSFRGISEHESNLVWKQGSATGEKLRSPSQG
GSFSQVIFTNKSLGKRDLYDEAERCLILTADSIMCQKVPPEERPYRCDVCGHSFKQHSSLTQHQRIHTGEKPYKCNQCGK
AFSLRSYLIIHQRIHSGEKAYECSECGKAFNQSSALIRHRKIHTGEKACKCNECGKAFSQSSYLIIHQRIHTGEKPYECN
ECGKTFSQSSKLIRHQRIHTGERPYECNECGKAFRQSSELITHQRIHSGEKPYECSECGKAFSLSSNLIRHQRIHSGEEP
YQCNECGKTFKRSSALVQHQRIHSGDEAYICNECGKAFRHRSVLMRHQRVHTIK*

Gene Symbol:ZNF397
Accession:XM_047437889
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVESGVISTLIPQDPPEQELILVKVEDNFSWDEKFKQNGSTQSCQELFRQQFRKFCYQETPGPREALSRLQELCYQWLM
PELHTKEQILELLVLEQFLSILPEELQIWVQQHNPESGEEAVTLLEDLEREFDDPGQQVPASPQGPAVPWKDLTCLRASQ
ESTDIHLQPLKTQLKSWKPCLSPKSDCENSETATKEGISEEKSQGLPQEPSFRGISEHESNLVWKQGSATGEKLRSPSQG
GSFSQVIFTNKSLGKRDLYDEAERCLILTADSIMCQKVPPEERPYRCDVCGHSFKQHSSLTQHQRIHTGEKPYKCNQCGK
AFSLRSYLIIHQRIHSGEKAYECSECGKAFNQSSALIRHRKIHTGEKACKCNECGKAFSQSSYLIIHQRIHTGEKPYECN
ECGKTFSQSSKLIRHQRIHTGERPYECNECGKAFRQSSELITHQRIHSGEKPYECSECGKAFSLSSNLIRHQRIHSGEEP
YQCNECGKTFKRSSALVQHQRIHSGDEAYICNECGKAFRHRSVLMRHQRVHTIK*

Gene Symbol:ZNF397
Accession:NM_032347
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002731819 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ZNF397 CLINVAR
OMIM 609601 CLINVAR