ClinVar

NM_000514.4(GDNF):c.*131GGA[9]

Gene:

GDNF:glial cell derived neurotrophic factor [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

5p13.2

Genomic location:

• Chr5: 37815488 - 37815493 (on Assembly GRCh38)
• Chr5: 37815590 - 37815595 (on Assembly GRCh37)

Preferred name:

NM_000514.4(GDNF):c.*131GGA[9]

HGVS:

• NC_000005.10:g.37815490CTC[9]
• NG_011675.2:g.29161GGA[9]
• NM_000514.4:c.*131GGA[9]MANE SELECT
• NM_001190468.1:c.*131GGA[9]
• NM_001190469.1:c.*131GGA[9]
• NM_001278098.1:c.*131GGA[9]
• NM_199231.2:c.*131GGA[9]
• NC_000005.9:g.37815592CTC[9]

This HGVS expression did not pass validation

Links:

dbSNP: rs150577324

NCBI 1000 Genomes Browser:

rs150577324

Molecular consequence:

• NM_000514.4:c.*131GGA[9] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001190468.1:c.*131GGA[9] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001190469.1:c.*131GGA[9] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001278098.1:c.*131GGA[9] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_199231.2:c.*131GGA[9] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]