ClinVar

NM_014210.4(EVI2A):c.300C>A (p.Val100=)

Genes:

LOC130060656:ATAC-STARR-seq lymphoblastoid active region 12010 [Gene]
EVI2A:ecotropic viral integration site 2A [Gene - OMIM - HGNC]
NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q11.2

Genomic location:

• Chr17: 31318714 (on Assembly GRCh38)
• Chr17: 29645732 (on Assembly GRCh37)

Preferred name:

NM_014210.4(EVI2A):c.300C>A (p.Val100=)

HGVS:

• NC_000017.11:g.31318714G>T
• NG_009018.1:g.228738G>T
• NG_195940.1:g.104G>T
• NM_000267.3:c.4773-7106G>T
• NM_001003927.3:c.369C>A
• NM_001042492.3:c.4836-7106G>TMANE SELECT
• NM_014210.4:c.300C>AMANE SELECT
• NP_001003927.1:p.Val123=
• NP_055025.2:p.Val100=
• LRG_214t1:c.4773-7106G>T
• LRG_214:g.228738G>T
• NC_000017.10:g.29645732G>T
• NM_001003927.2:c.369C>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000267.3:c.4773-7106G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001042492.3:c.4836-7106G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001003927.3:c.369C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014210.4:c.300C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

3