ClinVar

NM_001077418.3(TMEM231):c.140-28C>G

Genes:

LOC130059440:ATAC-STARR-seq lymphoblastoid silent region 7724 [Gene]
TMEM231:transmembrane protein 231 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q23.1

Genomic location:

• Chr16: 75556001 (on Assembly GRCh38)
• Chr16: 75589899 (on Assembly GRCh37)

Preferred name:

NM_001077418.3(TMEM231):c.140-28C>G

HGVS:

• NC_000016.10:g.75556001G>C
• NG_033109.1:g.5286C>G
• NM_001077416.2:c.271C>G
• NM_001077418.3:c.140-28C>GMANE SELECT
• NP_001070884.2:p.Arg91Gly
• NC_000016.9:g.75589899G>C

This HGVS expression did not pass validation

Protein change:

R91G

Links:

dbSNP: rs375353411

NCBI 1000 Genomes Browser:

rs375353411

Molecular consequence:

• NM_001077418.3:c.140-28C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001077416.2:c.271C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1