ClinVar

NM_005654.6(NR2F1):c.278C>T (p.Ser93Leu)

Genes:

NR2F1-AS1:NR2F1 antisense RNA 1 [Gene - HGNC]
NR2F1:nuclear receptor subfamily 2 group F member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q15

Genomic location:

• Chr5: 93585301 (on Assembly GRCh38)
• Chr5: 92921007 (on Assembly GRCh37)

Preferred name:

NM_005654.6(NR2F1):c.278C>T (p.Ser93Leu)

HGVS:

• NC_000005.10:g.93585301C>T
• NG_034119.1:g.6965C>T
• NM_005654.6:c.278C>TMANE SELECT
• NP_005645.1:p.Ser93Leu
• NC_000005.9:g.92921007C>T
• NM_005654.5:c.278C>T

This HGVS expression did not pass validation

Protein change:

S93L

Links:

dbSNP: rs1064797311

NCBI 1000 Genomes Browser:

rs1064797311

Molecular consequence:

• NM_005654.6:c.278C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1