ClinVar

NM_000117.3(EMD):c.396C>T (p.His132=)

Gene:

EMD:emerin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154380364 (on Assembly GRCh38)
• ChrX: 153608724 (on Assembly GRCh37)

Preferred name:

NM_000117.3(EMD):c.396C>T (p.His132=)

HGVS:

• NC_000023.11:g.154380364C>T
• NG_008677.1:g.10929C>T
• NM_000117.3:c.396C>TMANE SELECT
• NP_000108.1:p.His132=
• NP_000108.1:p.His132=
• LRG_745t1:c.396C>T
• LRG_745:g.10929C>T
• LRG_745p1:p.His132=
• NC_000023.10:g.153608724C>T
• NM_000117.2:c.396C>T
• c.396C>T
• p.His132His

This HGVS expression did not pass validation

Links:

dbSNP: rs145985318

NCBI 1000 Genomes Browser:

rs145985318

Molecular consequence:

• NM_000117.3:c.396C>T - synonymous variant - [Sequence Ontology: SO:0001819]