ClinVar

NM_001130012.3(NHERF2):c.252G>A (p.Arg84=)

Gene:

NHERF2:NHERF family PDZ scaffold protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2029620 (on Assembly GRCh38)
• Chr16: 2079621 (on Assembly GRCh37)

Preferred name:

NM_001130012.3(NHERF2):c.252G>A (p.Arg84=)

HGVS:

• NC_000016.10:g.2029620G>A
• NG_047104.1:g.7753G>A
• NM_001130012.3:c.252G>AMANE SELECT
• NM_004785.6:c.252G>A
• NP_001123484.1:p.Arg84=
• NP_004776.3:p.Arg84=
• NC_000016.9:g.2079621G>A
• NM_001130012.2:c.252G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs387907539

NCBI 1000 Genomes Browser:

rs387907539

Molecular consequence:

• NM_001130012.3:c.252G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004785.6:c.252G>A - synonymous variant - [Sequence Ontology: SO:0001819]