RGD:401908577 Rat Genome Database

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Variant: RGD:401908577 -  Homo sapiens

RGD ID: 401908577
ClinVar ID: CV2811806
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM221  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 17,547,333
GRCh38 19 17,436,524
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.810G>A
NC_000019.10:g.17436524C>T
NC_000019.9:g.17547333C>T
NP_001177773.1:p.Thr270=
 07/01/2022 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TMEM221
Accession:NM_001190844
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARSYGGRVLAAMTLLGIAAAVLAALGAQLLFQLQAGRAELRGLRAEGLGQELGAGPGLPEDAAGTLLPLAAALAALVLV
LGFTCLLLAALCGHLGAELARGPGPRRSDWFLYDCRLLRHVALGLFCCGISVYLAALSIYALLLFEIETGAAAASILGSG
TLVLVAVLTHTLLRAARAARRGLHELSPPSFEDDLARPAEVSKASPRAQPQQGIHRRTPYSTCPEPGDPFGSMATATAPA
ALEGGWESSLPASRMHRTLSAGLGHWDGVTHEMRRMLGHRPGSMGKDSTLV*

Gene Symbol:TMEM221
Accession:XM_011527603
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003423437 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TMEM221 CLINVAR