ClinVar

NM_001142966.3(GREB1L):c.1124C>T (p.Pro375Leu)

Genes:

GREB1L:GREB1 like retinoic acid receptor coactivator [Gene - OMIM - HGNC]
LOC101927521:uncharacterized LOC101927521 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

18q11.1

Genomic location:

• Chr18: 21441454 (on Assembly GRCh38)
• Chr18: 19021415 (on Assembly GRCh37)

Preferred name:

NM_001142966.3(GREB1L):c.1124C>T (p.Pro375Leu)

HGVS:

• NC_000018.10:g.21441454C>T
• NM_001142966.3:c.1124C>TMANE SELECT
• NM_001410867.1:c.1253C>T
• NM_001410868.1:c.1124C>T
• NP_001136438.1:p.Pro375Leu
• NP_001397796.1:p.Pro418Leu
• NP_001397797.1:p.Pro375Leu
• NC_000018.9:g.19021415C>T
• NM_001142966.1:c.1124C>T

This HGVS expression did not pass validation

Protein change:

P375L

Molecular consequence:

• NM_001142966.3:c.1124C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410867.1:c.1253C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410868.1:c.1124C>T - missense variant - [Sequence Ontology: SO:0001583]