ClinVar

NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly)

Gene:

SHOC2:SHOC2 leucine rich repeat scaffold protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.2

Genomic location:

• Chr10: 110964432 (on Assembly GRCh38)
• Chr10: 112724190 (on Assembly GRCh37)

Preferred name:

NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly)

Other names:

p.E25G:GAA>GGA

HGVS:

• NC_000010.11:g.110964432A>G
• NG_028922.1:g.49890A>G
• NM_001269039.3:c.74A>G
• NM_001324336.2:c.74A>G
• NM_001324337.2:c.74A>G
• NM_007373.4:c.74A>GMANE SELECT
• NP_001255968.1:p.Glu25Gly
• NP_001311265.1:p.Glu25Gly
• NP_001311266.1:p.Glu25Gly
• NP_031399.2:p.Glu25Gly
• NP_031399.2:p.Glu25Gly
• LRG_753t1:c.74A>G
• LRG_753:g.49890A>G
• LRG_753p1:p.Glu25Gly
• NC_000010.10:g.112724190A>G
• NM_007373.3:c.74A>G
• p.Glu25Gly

This HGVS expression did not pass validation

Protein change:

E25G

Links:

dbSNP: rs730881019

NCBI 1000 Genomes Browser:

rs730881019

Molecular consequence:

• NM_001269039.3:c.74A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324336.2:c.74A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324337.2:c.74A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_007373.4:c.74A>G - missense variant - [Sequence Ontology: SO:0001583]