RGD:155931443 Rat Genome Database

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Variant: RGD:155931443 -  Homo sapiens

RGD ID: 155931443
ClinVar ID: CV2221032
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM221  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 17,559,087
GRCh38 19 17,448,278
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001190844.2:c.185A>C
NC_000019.10:g.17448278T>G
NC_000019.9:g.17559087T>G
NM_001190844.1:c.185A>C
More... 		07/09/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TMEM221
Accession:XM_011527603
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 62
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARSYGGRVLAAMTLLGIAAAVLAALGAQLLFQLQAGRAELRGLRAEGLGQELGAGPGLPEAAAGTLLPLAAALAALVLV
LGFTCLLLAALCGHLGAELARGPGPRRSDWFLYDCRLLRHVALGLFCCGISVYLAALSIYALLLFEIETGAAAASILGSG
TLVLVAVLTHTLLRAARAARRGLHELSPPSFEDDLARPAEVSKASPRAQPQQDEETEAPREAVTHQGAHGQD*

Gene Symbol:TMEM221
Accession:NM_001190844
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 62
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARSYGGRVLAAMTLLGIAAAVLAALGAQLLFQLQAGRAELRGLRAEGLGQELGAGPGLPEAAAGTLLPLAAALAALVLV
LGFTCLLLAALCGHLGAELARGPGPRRSDWFLYDCRLLRHVALGLFCCGISVYLAALSIYALLLFEIETGAAAASILGSG
TLVLVAVLTHTLLRAARAARRGLHELSPPSFEDDLARPAEVSKASPRAQPQQGIHRRTPYSTCPEPGDPFGSMATATAPA
ALEGGWESSLPASRMHRTLSAGLGHWDGVTHEMRRMLGHRPGSMGKDSTLV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004092712 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TMEM221 CLINVAR