RGD:155976006 Rat Genome Database

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Variant: RGD:155976006 -  Homo sapiens

RGD ID: 155976006
ClinVar ID: CV2231544
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SH2D4A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 19,214,762
GRCh38 8 19,357,251
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001174160.2:c.427A>G
NM_001363110.2:c.514-3952A>G
NM_001363111.2:c.514-3952A>G
NM_001174159.2:c.562A>G
More... 		12/19/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SH2D4A
Accession:NM_022071
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKQILSEMYIDPDLLAELSEEQKQILFFKMREEQIRRWKEREAAMERKESLPVKPRPKKENGKSVHWKLGADKEVWVWV
MGEHHLDKPYDVLCNEIIAERARLKAEQEAEEPRKTHSEEFTNSLKTKSQYHDLQAPDNQQTKDIWKKVAEKEELEQGSR
PAPTLEEEKIRSLSSSSRNIQQMLADSVNRMKAYAFHQKKESMKKKQDEEINQIEEERTKQICKSWKEDSEWQASLRKSK
AADEKRRSLAKQAREDYKRLSLGAQKGRGGERLQSPLRVPQKPERPPLPPKPQFLNSGAYPQKPLRNQGVVRTLSSSAQE
DIIRWFKEEQLPLRAGYQKTSDTIAPWFHGILTLKKANELLLSTGMPGSFLIRVSERIKGYALSYLSEDGCKHFLIDASA
DAYSFLGVDQLQHATLADLVEYHKEEPITSLGKELLLYPCGQQDQLPDYLELFE*

Gene Symbol:SH2D4A
Accession:NM_001174160
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWRVIEPPCPGAPSTENGKSVHWKLGADKEVWVWVMGEHHLDKPYDVLCNEIIAERARLKAEQEAEEPRKTHSEEFTNSL
KTKSQYHDLQAPDNQQTKDIWKKVAEKEELEQGSRPAPTLEEEKIRSLSSSSRNIQQMLADSVNRMKAYAFHQKKESMKK
KQDEEINQIEEERTKQICKSWKEDSEWQASLRKSKAADEKRRSLAKQAREDYKRLSLGAQKGRGGERLQSPLRVPQKPER
PPLPPKPQFLNSGAYPQKPLRNQGVVRTLSSSAQEDIIRWFKEEQLPLRAGYQKTSDTIAPWFHGILTLKKANELLLSTG
MPGSFLIRVSERIKGYALSYLSEDGCKHFLIDASADAYSFLGVDQLQHATLADLVEYHKEEPITSLGKELLLYPCGQQDQ
LPDYLELFE*

Gene Symbol:SH2D4A
Accession:NM_001174159
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKQILSEMYIDPDLLAELSEEQKQILFFKMREEQIRRWKEREAAMERKESLPVKPRPKKENGKSVHWKLGADKEVWVWV
MGEHHLDKPYDVLCNEIIAERARLKAEQEAEEPRKTHSEEFTNSLKTKSQYHDLQAPDNQQTKDIWKKVAEKEELEQGSR
PAPTLEEEKIRSLSSSSRNIQQMLADSVNRMKAYAFHQKKESMKKKQDEEINQIEEERTKQICKSWKEDSEWQASLRKSK
AADEKRRSLAKQAREDYKRLSLGAQKGRGGERLQSPLRVPQKPERPPLPPKPQFLNSGAYPQKPLRNQGVVRTLSSSAQE
DIIRWFKEEQLPLRAGYQKTSDTIAPWFHGILTLKKANELLLSTGMPGSFLIRVSERIKGYALSYLSEDGCKHFLIDASA
DAYSFLGVDQLQHATLADLVEYHKEEPITSLGKELLLYPCGQQDQLPDYLELFE*

Gene Symbol:SH2D4A
Accession:XM_047422079
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKQILSEMYIDPDLLAELSEEQKQILFFKMREEQIRRWKEREAAMERKESLPVKPRPKKENGKSVHWKLGADKEVWVWV
MGEHHLDKPYDVLCNEIIAERARLKAEQEAEEPRKTHSEEFTNSLKTKSQYHDLQAPDNQQTKDIWKKVAEKEELEQGSR
PAPTLEEEKIRSLSSSSRNIQQMLADSVNRMKAYAFHQKKESMKKKQDEEINQIEEERTKQICKSWKEDSEWQASLRKSK
AADEKRRSLAKQAREDYKRLSLGAQKGRGGERLQSPLRVPQKPERPPLPPKPQFLNSGAYPQKPLRNSHTQESK*

Gene Symbol:SH2D4A
Accession:NR_156444
Location:EXON;NON-CODING

Gene Symbol:SH2D4A
Accession:XM_047422080
Location:INTRON

Gene Symbol:SH2D4A
Accession:NM_001363111
Location:INTRON

Gene Symbol:SH2D4A
Accession:NM_001363110
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004096602 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SH2D4A CLINVAR
OMIM 614968 CLINVAR