ClinVar

NM_024680.4(E2F8):c.2091G>A (p.Pro697=)

Genes:

CSRP3-AS1:CSRP3 and E2F8 antisense RNA 1 [Gene - HGNC]
E2F8:E2F transcription factor 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 19225551 (on Assembly GRCh38)
• Chr11: 19247098 (on Assembly GRCh37)

Preferred name:

NM_024680.4(E2F8):c.2091G>A (p.Pro697=)

HGVS:

• NC_000011.10:g.19225551C>T
• NM_001256371.2:c.2091G>A
• NM_001256372.1:c.2091G>A
• NM_024680.4:c.2091G>AMANE SELECT
• NP_001243300.1:p.Pro697=
• NP_001243300.1:p.Pro697=
• NP_001243301.1:p.Pro697=
• NP_078956.2:p.Pro697=
• NC_000011.9:g.19247098C>T
• NM_001256371.1:c.2091G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs3740965

NCBI 1000 Genomes Browser:

rs3740965

Molecular consequence:

• NM_001256371.2:c.2091G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256372.1:c.2091G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024680.4:c.2091G>A - synonymous variant - [Sequence Ontology: SO:0001819]