ClinVar

NM_024915.4(GRHL2):c.34G>T (p.Val12Leu)

Gene:

GRHL2:grainyhead like transcription factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.3

Genomic location:

• Chr8: 101543254 (on Assembly GRCh38)
• Chr8: 102555482 (on Assembly GRCh37)

Preferred name:

NM_024915.4(GRHL2):c.34G>T (p.Val12Leu)

HGVS:

• NC_000008.11:g.101543254G>T
• NG_011971.2:g.55815G>T
• NM_001330593.2:c.-15G>T
• NM_024915.4:c.34G>TMANE SELECT
• NP_079191.2:p.Val12Leu
• NC_000008.10:g.102555482G>T
• NG_011971.1:g.55815G>T
• NM_024915.3:c.34G>T

This HGVS expression did not pass validation

Protein change:

V12L

Links:

dbSNP: rs749906501

NCBI 1000 Genomes Browser:

rs749906501

Molecular consequence:

• NM_001330593.2:c.-15G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_024915.4:c.34G>T - missense variant - [Sequence Ontology: SO:0001583]