RGD:156156585 Rat Genome Database

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Variant: RGD:156156585 -  Homo sapiens

RGD ID: 156156585
ClinVar ID: CV2266228
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZNF132  ZNF324B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 58,946,239
GRCh38 19 58,434,872
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003433.4:c.572C>T
NC_000019.10:g.58434872G>A
NC_000019.9:g.58946239G>A
NM_003433.3:c.572C>T
More... 		02/10/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZNF324B
Accession:XM_047438807
Location:5UTRS;INTRON

Gene Symbol:ZNF132
Accession:NM_003433
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALPSPQVLMGLPALLMGPAQHTSWPCGSAVPTLKSMVTFEDVAVYFSQEEWELLDAAQRHLYHSVMLENLELVTSLGSW
HGVEGEGAHPKQNVSVEVLQVRIPNADPSTKKANSCDMCGPFLKDILHLAEHQGTQSEEKPYTCGACGRDFWLNANLHQH
QKEHSGGKPFRWYKDRDALMKSSKVHLSENHFTCREGGKVILGSCDLLQLQAVDSGQKPYSNLGQLPEVCTTQKLFECSN
CGKAFLKSSTLPNHLRTHSEEIPFTCPTGGNFLEEKSILGNKKFHTGEIPHVCKECGKAFSHSSKLRKHQKFHTEVKYYE
CIACGKTFNHKLTFVHHQRIHSGERPYECDECGKAFSNRSHLIRHEKVHTGERPFECLKCGRAFSQSSNFLRHQKVHTQV
RPYECSQCGKSFSRSSALIQHWRVHTGERPYECSECGRAFNNNSNLAQHQKVHTGERPFECSECGRDFSQSSHLLRHQKV
HTGERPFECCDCGKAFSNSSTLIQHQKVHTGQRPYECSECRKSFSRSSSLIQHWRIHTGEKPYECSECGKAFAHSSTLIE
HWRVHTKERPYECNECGKFFSQNSILIKHQKVHTGEKPYKCSECGKFFSRKSSLICHWRVHTGERPYECSECGRAFSSNS
HLVRHQRVHTQERPYECIQCGKAFSERSTLVRHQKVHTRERTYECSQCGKLFSHLCNLAQHKKIHT*

Gene Symbol:ZNF132
Accession:XM_047439361
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPGCICQHTSWPCGSAVPTLKSMVTFEDVAVYFSQEEWELLDAAQRHLYHSVMLENLELVTSLGSWHGVEGEGAHPKQN
VSVEVLQVRIPNADPSTKKANSCDMCGPFLKDILHLAEHQGTQSEEKPYTCGACGRDFWLNANLHQHQKEHSGGKPFRWY
KDRDALMKSSKVHLSENHFTCREGGKVILGSCDLLQLQAVDSGQKPYSNLGQLPEVCTTQKLFECSNCGKAFLKSSTLPN
HLRTHSEEIPFTCPTGGNFLEEKSILGNKKFHTGEIPHVCKECGKAFSHSSKLRKHQKFHTEVKYYECIACGKTFNHKLT
FVHHQRIHSGERPYECDECGKAFSNRSHLIRHEKVHTGERPFECLKCGRAFSQSSNFLRHQKVHTQVRPYECSQCGKSFS
RSSALIQHWRVHTGERPYECSECGRAFNNNSNLAQHQKVHTGERPFECSECGRDFSQSSHLLRHQKVHTGERPFECCDCG
KAFSNSSTLIQHQKVHTGQRPYECSECRKSFSRSSSLIQHWRIHTGEKPYECSECGKAFAHSSTLIEHWRVHTKERPYEC
NECGKFFSQNSILIKHQKVHTGEKPYKCSECGKFFSRKSSLICHWRVHTGERPYECSECGRAFSSNSHLVRHQRVHTQER
PYECIQCGKAFSERSTLVRHQKVHTRERTYECSQCGKLFSHLCNLAQHKKIHT*

Gene Symbol:ZNF324B
Accession:NM_207395
Location:INTRON

Gene Symbol:ZNF324B
Accession:XM_005258915
Location:INTRON

Gene Symbol:ZNF324B
Accession:XM_005258918
Location:INTRON

Gene Symbol:ZNF324B
Accession:XM_047438806
Location:INTRON

Gene Symbol:ZNF324B
Accession:XM_047438808
Location:INTRON

Gene Symbol:ZNF324B
Accession:XM_047438809
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002827110 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ZNF132 CLINVAR
  ZNF324B CLINVAR
OMIM 604074 CLINVAR