ClinVar

NM_001122681.2(SH3BP2):c.*6928T>C

Gene:

SH3BP2:SH3 domain binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

• Chr4: 2840762 (on Assembly GRCh38)
• Chr4: 2842489 (on Assembly GRCh37)

Preferred name:

NM_001122681.2(SH3BP2):c.*6928T>C

HGVS:

• NC_000004.12:g.2840762T>C
• NG_011609.1:g.52740T>C
• NG_012037.1:g.1906T>C
• NM_001122681.2:c.*6928T>CMANE SELECT
• NM_001145855.2:c.*6928T>C
• NM_001145856.2:c.*6928T>C
• NM_003023.4:c.*6928T>C
• LRG_1334t1:c.*6928T>C
• LRG_1334t2:c.*6928T>C
• LRG_1334:g.52740T>C
• NC_000004.11:g.2842489T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs886059391

NCBI 1000 Genomes Browser:

rs886059391

Molecular consequence:

• NM_001122681.2:c.*6928T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001145855.2:c.*6928T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001145856.2:c.*6928T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]