ClinVar

NM_006506.5(RASA2):c.1170-8T>C

Gene:

RASA2:RAS p21 protein activator 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q23

Genomic location:

• Chr3: 141572601 (on Assembly GRCh38)
• Chr3: 141291443 (on Assembly GRCh37)

Preferred name:

NM_006506.5(RASA2):c.1170-8T>C

HGVS:

• NC_000003.12:g.141572601T>C
• NG_042187.1:g.90555T>C
• NM_001303245.3:c.1170-8T>C
• NM_001303246.3:c.1170-8T>C
• NM_006506.5:c.1170-8T>CMANE SELECT
• NC_000003.11:g.141291443T>C

This HGVS expression did not pass validation

Molecular consequence:

• NM_001303245.3:c.1170-8T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001303246.3:c.1170-8T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_006506.5:c.1170-8T>C - intron variant - [Sequence Ontology: SO:0001627]