ClinVar

NM_007373.4(SHOC2):c.-179T>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.2

Genomic location:

• Chr10: 110964180 (on Assembly GRCh38)
• Chr10: 112723938 (on Assembly GRCh37)

Preferred name:

NM_007373.4(SHOC2):c.-179T>A

HGVS:

• NC_000010.11:g.110964180T>A
• NG_028922.1:g.49638T>A
• NM_001269039.3:c.-179T>A
• NM_001324336.2:c.-179T>A
• NM_001324337.2:c.-179T>A
• NM_007373.4:c.-179T>AMANE SELECT
• LRG_753t1:c.-179T>A
• LRG_753:g.49638T>A
• NC_000010.10:g.112723938T>A
• NM_007373.3:c.-179T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs143180451

NCBI 1000 Genomes Browser:

rs143180451

Molecular consequence:

• NM_001269039.3:c.-179T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001324336.2:c.-179T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001324337.2:c.-179T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_007373.4:c.-179T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Observations:

4