ClinVar

NM_013442.3(STOML2):c.101G>A (p.Arg34Gln)

Genes:

LOC130001695:ATAC-STARR-seq lymphoblastoid active region 28321 [Gene]
PIGO-AS1:PIGO antisense RNA 1 [Gene - HGNC]
STOML2:stomatin like 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 35102768 (on Assembly GRCh38)
• Chr9: 35102765 (on Assembly GRCh37)

Preferred name:

NM_013442.3(STOML2):c.101G>A (p.Arg34Gln)

HGVS:

• NC_000009.12:g.35102768C>T
• NM_001287031.2:c.101G>A
• NM_001287032.1:c.-53G>A
• NM_001287033.2:c.45+282G>A
• NM_013442.3:c.101G>AMANE SELECT
• NP_001273960.1:p.Arg34Gln
• NP_038470.1:p.Arg34Gln
• NC_000009.11:g.35102765C>T
• NM_013442.1:c.101G>A

This HGVS expression did not pass validation

Protein change:

R34Q

Molecular consequence:

• NM_001287032.1:c.-53G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001287033.2:c.45+282G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287031.2:c.101G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_013442.3:c.101G>A - missense variant - [Sequence Ontology: SO:0001583]