RGD:15040442 Rat Genome Database

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Variant: RGD:15040442 -  Homo sapiens

RGD ID: 15040442
RS ID: rs749912939
ClinVar ID: CV680117
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EARS2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 23,546,353
GRCh38 16 23,535,032
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_003501.2:n.821G>A
NM_001083614.1:c.814G>A
NC_000016.10:g.23535032C>T
NM_001083614.2:c.814G>A
More... 		02/19/2023 missense variant likely pathogenic Arthrogryposis multiplex congenita; Congenital arthromyodysplasia; Congenital multiple arthrogryposis; Fetal akinesia sequence; Fibrous ankylosis of multiple joints; Guerin-Stern syndrome; Guérin-Stern syndrome; Lethal Pena-Shokeir 1 syndrome; Myodystrophia fetalis deformans; none provided; Otto syndrome; Pena Shokeir syndrome, type 1; Pena-Shokeir syndrome type I; Rocher-Sheldon syndrome; Rossi syndrome
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:EARS2
Accession:NM_001308211
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 272
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALLRRLLQRERPSAASGRPVGRREANLGTDAGVAVRVRFAPSPTGFLHLGGLRTALYNYIFAKKYQGSFILRLEDTDQ
TRVVPGAAENIEDMLEWAGIPPDESPRRGGPAGPYQQSQRLELYAQATEALLKTGAAYPCFCSPQRLELLKKEALRNHQT
PRYDNRCRNMSQEQVAQKLAKDPKPAIRFRLEQVVPAFQDLVYGWNRHEVASVEGDPVIMKSDGFPTYHLACVVDDHHMG
ISHVLRGSEWLVSTAKHLLLYQALGWQPPHFTHLPLLLNRDGSKLSKRQGDVFLEHFAADGFLPDSLLDIITNCGSGFAE
NQMGRTLPELITQFNLTQVTCHSALLDLEKLPEFNRLHLQRLVSNESQRRQLVGKLQVLVEEAFGCQLQNRDVLNPVYVE
RILLLRQGHICRLQDLVSPVYSYLWTRPAVGRAQLDAISEKVDVIAKRVLGLLERSSMSLTQDMLNGELKKLSEGLEGTK
YSNVMKLLRMALSGQQVRQGHGLDCSLEPLIDPLNLHFLAGTELNIEYTKVNET*

Gene Symbol:EARS2
Accession:NM_001083614
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 272
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALLRRLLQRERPSAASGRPVGRREANLGTDAGVAVRVRFAPSPTGFLHLGGLRTALYNYIFAKKYQGSFILRLEDTDQ
TRVVPGAAENIEDMLEWAGIPPDESPRRGGPAGPYQQSQRLELYAQATEALLKTGAAYPCFCSPQRLELLKKEALRNHQT
PRYDNRCRNMSQEQVAQKLAKDPKPAIRFRLEQVVPAFQDLVYGWNRHEVASVEGDPVIMKSDGFPTYHLACVVDDHHMG
ISHVLRGSEWLVSTAKHLLLYQALGWQPPHFTHLPLLLNRDGSKLSKRQGDVFLEHFAADGFLPDSLLDIITNCGSGFAE
NQMGRTLPELITQFNLTQVTCHSALLDLEKLPEFNRLHLQRLVSNESQRRQLVGKLQVLVEEAFGCQLQNRDVLNPVYVE
RILLLRQGHICRLQDLVSPVYSYLWTRPAVGRAQLDAISEKVDVIAKRVLGLLERSSMSLTQDMLNGELKKLSEGLEGTK
YSNVMKLLRMALSGQQQGPPVAEMMLALGPKEVRERIQKVVSS*

Gene Symbol:EARS2
Accession:XM_011545738
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIDDNLCNRCCRRWDTVIIEKGFLHLGGLRTALYNYIFAKKYQGSFILRLEDTDQTRVVPGAAENIEDMLEWAGIPPDE
SPRRGGPAGPYQQSQRLELYAQATEALLKTGAAYPCFCSPQRLELLKKEALRNHQTPRYDNRCRNMSQEQVAQKLAKDPK
PAIRFRLEQVVPAFQDLVYGWNRHEVASVEGDPVIMKSDGFPTYHLACVVDDHHMGISHVLRGSEWLVSTAKHLLLYQAL
GWQPPHFTHLPLLLNRDGSKLSKRQGDVFLEHFAADGFLPDSLLDIITNCGSGFAENQMGRTLPELITQFNLTQVTCHSA
LLDLEKLPEFNRLHLQRLVSNESQRRQLVGKLQVLVEEAFGCQLQNRDVLNPVYVERILLLRQGHICRLQDLVSPVYSYL
WTRPAVGRAQLDAISEKVDVIAKRVLGLLERSSMSLTQDMLNGELKKLSEGLEGTKYSNVMKLLRMALSGQQQGPPVAEM
MLALGPKEVRERIQKVVSS*

Gene Symbol:EARS2
Accession:NR_003501
Location:EXON;NON-CODING

Gene Symbol:EARS2
Accession:XR_001751841
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:31680123  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000855494 CLINVAR
  RCV001310323 CLINVAR
dbSNP (RS) rs749912939 CLINVAR
MedGen C1276035 CLINVAR
  C3661900 CLINVAR
NCBI Gene EARS2 CLINVAR
OMIM 208150 CLINVAR
  612799 CLINVAR
SNOMED CT 401138005 CLINVAR