ClinVar

NM_004068.4(AP2M1):c.30C>T (p.His10=)

Genes:

LOC123453202:Sharpr-MPRA regulatory region 464 [Gene]
AP2M1:adaptor related protein complex 2 subunit mu 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.1

Genomic location:

• Chr3: 184177023 (on Assembly GRCh38)
• Chr3: 183894811 (on Assembly GRCh37)

Preferred name:

NM_004068.4(AP2M1):c.30C>T (p.His10=)

HGVS:

• NC_000003.12:g.184177023C>T
• NM_001025205.2:c.30C>T
• NM_001311198.2:c.30C>T
• NM_004068.4:c.30C>TMANE SELECT
• NP_001020376.1:p.His10=
• NP_001298127.1:p.His10=
• NP_004059.2:p.His10=
• NC_000003.11:g.183894811C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1715096206

NCBI 1000 Genomes Browser:

rs1715096206

Molecular consequence:

• NM_001025205.2:c.30C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001311198.2:c.30C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004068.4:c.30C>T - synonymous variant - [Sequence Ontology: SO:0001819]