ClinVar

NM_032607.3(CREB3L3):c.1245G>A (p.Thr415=)

Genes:

LOC125371455:Sharpr-MPRA regulatory region 11650 [Gene]
CREB3L3:cAMP responsive element binding protein 3 like 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 4171828 (on Assembly GRCh38)
• Chr19: 4171825 (on Assembly GRCh37)

Preferred name:

NM_032607.3(CREB3L3):c.1245G>A (p.Thr415=)

HGVS:

• NC_000019.10:g.4171828G>A
• NM_001271995.2:c.1242G>A
• NM_001271996.2:c.1239G>A
• NM_001271997.2:c.*124G>A
• NM_032607.3:c.1245G>AMANE SELECT
• NP_001258924.1:p.Thr414=
• NP_001258925.1:p.Thr413=
• NP_115996.1:p.Thr415=
• NC_000019.9:g.4171825G>A
• NC_000019.9:g.4171825G>A
• NM_032607.2:c.1245G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs115268777

NCBI 1000 Genomes Browser:

rs115268777

Molecular consequence:

• NM_001271997.2:c.*124G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001271995.2:c.1242G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271996.2:c.1239G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032607.3:c.1245G>A - synonymous variant - [Sequence Ontology: SO:0001819]