ClinVar

NM_012082.4(ZFPM2):c.1366A>T (p.Ile456Leu)

Genes:

ZFPM2-AS1:ZFPM2 antisense RNA 1 [Gene - HGNC]
ZFPM2:zinc finger protein, FOG family member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q23.1

Genomic location:

• Chr8: 105801448 (on Assembly GRCh38)
• Chr8: 106813676 (on Assembly GRCh37)

Preferred name:

NM_012082.4(ZFPM2):c.1366A>T (p.Ile456Leu)

HGVS:

• NC_000008.11:g.105801448A>T
• NG_011723.2:g.487530A>T
• NM_001362836.2:c.1207A>T
• NM_001362837.2:c.970A>T
• NM_012082.4:c.1366A>TMANE SELECT
• NP_001349765.1:p.Ile403Leu
• NP_001349766.1:p.Ile324Leu
• NP_036214.2:p.Ile456Leu
• NC_000008.10:g.106813676A>T
• NG_011723.1:g.487530A>T

This HGVS expression did not pass validation

Protein change:

I324L

Links:

dbSNP: rs1554583012

NCBI 1000 Genomes Browser:

rs1554583012

Molecular consequence:

• NM_001362836.2:c.1207A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362837.2:c.970A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012082.4:c.1366A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2