NR_002144 L77Shift - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

NR_002144 L77Shift

(NR_002144 77delLinsShift)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het - @ chr7:128766801

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het - @ chr7:128766801

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het - @ chr7:128766801

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom - @ chr7:128766801

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het - @ chr7:128766801

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het - @ chr7:128766801

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het - @ chr7:128766801

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het - @ chr7:128766801

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het - @ chr7:128766801

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het - @ chr7:128766801

 

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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