ClinVar

NM_005739.4(RASGRP1):c.2121C>T (p.Pro707=)

Gene:

RASGRP1:RAS guanyl releasing protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q14

Genomic location:

• Chr15: 38494520 (on Assembly GRCh38)
• Chr15: 38786721 (on Assembly GRCh37)

Preferred name:

NM_005739.4(RASGRP1):c.2121C>T (p.Pro707=)

HGVS:

• NC_000015.10:g.38494520G>A
• NG_023268.2:g.75287C>T
• NM_001128602.2:c.2016C>T
• NM_001306086.2:c.1769-3832C>T
• NM_005739.4:c.2121C>TMANE SELECT
• NP_001122074.1:p.Pro672=
• NP_005730.2:p.Pro707=
• NC_000015.9:g.38786721G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001306086.2:c.1769-3832C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001128602.2:c.2016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005739.4:c.2121C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1