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Variant : CV79832 (NM_002456.5(MUC1):c.235C>T (p.Pro79Ser)) Homo sapiens

Symbol: CV79832
Name: NM_002456.5(MUC1):c.235C>T (p.Pro79Ser)
Condition: Malignant melanoma [RCV000059908]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: MIR92B   MUC1   THBS3   TRIM46  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant|intron variant
Evidence: literature only|not provided
HGVS Name(s): NM_001204290.1:c.124-156C>T
NM_001044393.2:c.162C>T
NM_001044390.2:c.162C>T
NM_001204294.1:c.162C>T
NM_001018017.2:c.181C>T
NM_001044391.2:c.181C>T
NM_001204291.1:c.187-147C>T
NM_001204289.1:c.187-156C>T
NM_001204296.1:c.189C>T
NM_001204292.1:c.189C>T
NM_001018016.2:c.208C>T
NM_001044392.2:c.208C>T
NM_001204288.1:c.208C>T
NM_001204295.1:c.208C>T
NM_002456.5:c.235C>T
NM_001204293.1:c.235C>T
NM_001204287.1:c.262C>T
NM_001204297.1:c.262C>T
NM_001204285.1:c.841C>T
NM_001204286.1:c.868C>T
NG_029383.1:g.7021C>T
NC_000001.11:g.155188210G>A
NC_000001.10:g.155160686G>A
NM_007112.3:c.*253+d4693C>T
NR_030281.1:c.1-u4282G>A
NM_025058.3:c.*779+d3241G>A
NM_001044390.1:c.162C>T
NM_001044393.1:c.162C>T
NM_001018017.1:c.181C>T
NM_001044391.1:c.181C>T
NM_001044392.1:c.208C>T
NM_001018016.1:c.208C>T
NM_002456.4:c.235C>T
NP_002447.4:p.Pro79Ser
NP_001037855.1:p.Ile54=
NP_001037858.1:p.Ile54=
NP_001191223.1:p.Ile54=
NP_001191225.1:p.Ile63=
NP_001191221.1:p.Ile63=
NP_001191214.1:p.Pro281Ser
NP_001191215.1:p.Pro290Ser
NP_001018017.1:p.Pro61Ser
NP_001037856.1:p.Pro61Ser
NP_001037857.1:p.Pro70Ser
NP_001018016.1:p.Pro70Ser
NP_001191217.1:p.Pro70Ser
NP_001191224.1:p.Pro70Ser
NP_001191222.1:p.Pro79Ser
NP_001191216.1:p.Pro88Ser
NP_001191226.1:p.Pro88Ser
NC_000001.9:g.153427310G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381155,188,210 - 155,188,210CLINVAR
GRCh371155,160,686 - 155,160,686CLINVAR
Build 361153,427,310 - 153,427,310CLINVAR
Cytogenetic Map11q22CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8624718
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2015-08-04
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.