RGD:407508841 Rat Genome Database

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Variant: RGD:407508841 -  Homo sapiens

RGD ID: 407508841
ClinVar ID: CV3431835
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM3B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 42,720,599
GRCh38 21 41,348,672
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_206964.2:c.422T>C
NM_058186.4:c.566T>C
NC_000021.9:g.41348672T>C
NC_000021.8:g.42720599T>C
More... 		04/19/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:FAM3B
Accession:XM_011529648
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGYPSSCLLKVVFVVFASLCAWYSGYLLAELIPDAPLSSAAYSIRSIGERPVLKAPVPKRQKCDHWTPCPSDTYAYRLLS
GGGRSKYAKICFEDNLLMGEQLGNVARGINIAIVNYVTGNVTATRCFDMYEGDNSGPMTKFIQSAAPKSLLFMVTYDDGS
TRLNNDAKNAIEALGSKEIRNMKFRSSWAFIAAKGLELPSEIQREKINHSDAKNNRYSGWPAEIQIEGCIPKERS*

Gene Symbol:FAM3B
Accession:NM_058186
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPLAGGLLKVVFVVFASLCAWYSGYLLAELIPDAPLSSAAYSIRSIGERPVLKAPVPKRQKCDHWTPCPSDTYAYRLLS
GGGRSKYAKICFEDNLLMGEQLGNVARGINIAIVNYVTGNVTATRCFDMYEGDNSGPMTKFIQSAAPKSLLFMVTYDDGS
TRLNNDAKNAIEALGSKEIRNMKFRSSWAFIAAKGLELPSEIQREKINHSDAKNNRYSGWPAEIQIEGCIPKERS*

Gene Symbol:FAM3B
Accession:NM_206964
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 141
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPLAGAPVPKRQKCDHWTPCPSDTYAYRLLSGGGRSKYAKICFEDNLLMGEQLGNVARGINIAIVNYVTGNVTATRCFD
MYEGDNSGPMTKFIQSAAPKSLLFMVTYDDGSTRLNNDAKNAIEALGSKEIRNMKFRSSWAFIAAKGLELPSEIQREKIN
HSDAKNNRYSGWPAEIQIEGCIPKERS*

Gene Symbol:FAM3B
Accession:XM_011529649
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAPWRHLFPPCEGRSPRLGLLKVVFVVFASLCAWYSGYLLAELIPDAPLSSAAYSIRSIGERPVLKAPVPKRQKCDHW
TPCPSDTYAYRLLSGGGRSKYAKICFEDNLLMGEQLGNVARGINIAIVNYVTGNVTATRCFDMYEGDNSGPMTKFIQSAA
PKSLLFMVTYDDGSTRLNNDAKNAIEALGSKEIRNMKFRSSWAFIAAKGLELPSEIQREKINHSDAKNNRYSGWPAEIQI
EGCIPKERS*

Gene Symbol:FAM3B
Accession:XR_007067791
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004625533 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FAM3B CLINVAR
OMIM 608617 CLINVAR