ClinVar

NM_001101426.4(CRPPA):c.789+9G>A

Gene:

CRPPA:CDP-L-ribitol pyrophosphorylase A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p21.2

Genomic location:

• Chr7: 16308514 (on Assembly GRCh38)
• Chr7: 16348139 (on Assembly GRCh37)

Preferred name:

NM_001101426.4(CRPPA):c.789+9G>A

HGVS:

• NC_000007.14:g.16308514C>T
• NG_032690.2:g.117809G>A
• NM_001101417.4:c.639+9G>A
• NM_001101426.3:c.789+9G>A
• NM_001101426.4:c.789+9G>AMANE SELECT
• NM_001368197.1:c.685-7048G>A
• NC_000007.13:g.16348139C>T
• NG_032690.1:g.117809G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs375132134

NCBI 1000 Genomes Browser:

rs375132134

Molecular consequence:

• NM_001101417.4:c.639+9G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001101426.4:c.789+9G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001368197.1:c.685-7048G>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1